Macular Appearance Research Articles

Macular Dystrophy Associated With the A3243G Mitochondrial DNA Mutation

To determine (1) detailed retinal and audiological features of probands harboring the A3243G mitochondrial DNA mutation (m.3243A>G) and their asymptomatic maternal relatives, (2) intrafamilial and interfamilial phenotypic variability, and (3) the presence of other systemic features. Seven probands harboring the A3243G mitochondrial DNA mutation and 36 asymptomatic maternal relatives were ascertained. Participants underwent ophthalmologic examination, fundus photography, autofluorescence imaging, and audiological evaluation and completed a questionnaire. Blood samples were taken to test for diabetes, determine renal function, and screen relatives for the A3243G mutation. The A3243G mutation was associated with both intrafamilial and interfamilial variable expressivity regarding retinal appearance, hearing loss, diabetes, and other systemic features. The most common macular appearance in maternal relatives (one-third of those positive for the mutation) was mild abnormalities of the retinal pigment epithelium (more clearly identified using autofluorescence), which may therefore be a useful clinical indicator suggesting positive mutation status. Four probands and 13 mutation-positive relatives were found to have evidence of significant bilateral, cochlear, symmetrical age-adjusted hearing loss, predominantly affecting high frequencies. Hearing loss and macular disturbance were the most frequent findings in mutation-positive participants, with 95% of mutation-positive relatives having hearing loss. Diabetes was the least frequent finding. Patients with progressive hearing loss may merit ophthalmologic assessment to detect retinal abnormalities consistent with the A3243G mutation. Conversely, patients with macular features in keeping with the A3243G mutation should have audiological testing, even in the absence of diabetes or a positive family history.

Which color vision test should be used in progressive cone dystrophy?

Abstract Purpose: The early manifestation of progressive cone dystrophy (COD) can remain unrecognized due to the relatively normal macular appearance. Color vision testing can be very useful as a first diagnostic step. The many available color vision tests have different benefits and shortcomings. We aimed to identify which test would be preferred to use in a clinical setting as a first step towards diagnosis of COD. Methods: We compared patients (n=18) derived from the ophthalmogenetic unit of Erasmus Medical Center and University Medical Center Nijmegen, with various levels of cone dysfunction. Golden Standard for diagnosis of COD was a diminished photopic ERG and a relative central scotoma on Goldmann perimetry. Controls (n=33) were patients from these clinics with other diagnoses or healthy companions of COD patients. We estimated sensitivity and specificity of the Ishihara test, Lanthony Desaturated and Saturated Panel D15 test, the Hardy‐Rand‐Rittler (HRR) pseudo‐isochromatic plates, and the Nagel anomaloscope. We analyzed sensitivity, specificity and the predictive value with receiver operating characteristic curve (ROC). Results: The HRR test had the highest sensitivity and specificity for protan and deutan axes. HRR and Ishihara had the highest predictive value. Lanthony Panel D15 test did not have an additional predictive value for severe color vision defects. The Nagel anomaloscope was not reliable due to low specificity. Its results showed high variations among both healthy and afflicted individuals. Conclusions: The HRR test was the most useful for COD. This test had the highest sensitivity in detecting early dysfunction of all three cone types, and it adequately quantifies the level of cone dysfunction in the course of the disease.

Reticular Infantile Hemangioma of the Limb Can Be Associated with Ventral‐Caudal Anomalies, Refractory Ulceration, and Cardiac Overload

We describe six patients with an uncommon variant of infantile hemangioma that we have termed reticular, occurring in the extremity, which were associated with intractable ulceration, anogenito-urinary-sacral anomalies, and sometimes cardiac overload. The extreme end of the spectrum is exemplified by a male neonate who presented with a stained, enlarged, pulsatile lower extremity, and cardiac failure. He also had hepatic hemangiomas and ambiguous genitalia. Progressive soft tissue necrosis and bony destruction necessitated amputation. The histopathologic features differed from those of typical infantile hemangioma: infiltrative (not lobular) and involving fascia, muscle, and bone. The mid-spectrum is illustrated by five females with reticular infantile hemangioma of the lower limb, buttock, and perineum. Four of these infants had a ventral-caudal anomaly, including omphalocele, recto-vaginal fistula, solitary/duplex kidney, imperforate anus, and tethered cord; one infant also had hepatic hemangiomas. Deep ulcerations healed following corticosteroid therapy; one patient required skin graft for closure of a thigh wound. The minor end of the spectrum is exemplified a patchy lesion in the distal limb. The reticular variant of infantile hemangioma can be confused with other vascular anomalies in the limb, such as capillary malformation, cutis marmorata telangiectasia congenita, diffuse arteriovenous malformation (Parkes Weber syndrome) and capillary-lymphatico-venous malformation (Klippel-Trenaunay syndrome). The macular network-like appearance of the tumor and coexisting ventral-caudal structural anomalies is analogous to the association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities association in the craniofacial region.

Pervasive ocular anomalies in posterior microphthalmos

Background Posterior microphthalmos is a relatively rare condition that has been reported to coexist with several other ophthalmic conditions. However, to the best of the authors’ knowledge, there are no previous reports that have found posterior microphthalmos and refractive, binocular, retinal, and neurologic considerations, along with a possible hereditary component. The following report documents the coexistence of posterior microphthalmos with severe hyperopia, esotropia, macular folds, and optic nerve hypoplasia in a pair of siblings. Case report A 9-year-old Hispanic girl presented for a comprehensive eye examination. Best-corrected visual acuity (VA) was reduced in both eyes with poorer VA in the right eye. Binocular testing found a small angle constant right esotropia (ET). On dilated fundus examination, a peculiar, elevated, dolphin-shaped folding of the macula was identified, the right eye greater than the left eye, that extended toward an anomalous optic nerve head in both eyes (OU), presumed to be a disc hypoplasia. The patient’s brother, who also exhibited severe hyperopia and ET, presented with a similar acuity reduction, a nearly identical folded macular appearance, the right eye more so than the left eye, and a probable optic nerve hypoplasia. Pachymetry, ultrasonography, and ocular coherence tomography imaging of both siblings found thickened corneas in the presence of posterior microphthalmos OU and macular folds affecting only the retina, leaving the choroid and sclera unaffected. Conclusions Posterior microphthalmos may exist in the presence of ocular anomalies along with refractive, binocular, retinal, neurologic, and genetic considerations. In this case, optical coherence tomography provided information on the internal morphology of the macular folds, which helped direct the differential diagnosis. The similar presentation among siblings supports a hereditary component that warrants further investigation.

Is There Still a Clinical Use for Scanning Laser Polarimetry with Fixed Corneal Compensator?

Purpose: To compare the scanning laser polarimetry device with a fixed corneal compensator (GDx FCC) with the new version with a variable corneal compensator (GDx VCC) in healthy subjects. Methods: A prospective, nonrandomized, comparative trial was carried out with both the FCC and the VCC systems on 130 healthy volunteers. The FCC measurements were divided into 2 subgroups, in accordance with the appearance of the macula. Subjects with a uniform aspect of the macula were included in the macula-‘negative’ group (macula–), whereas subjects with an irregular macular appearance with FCC were included in the macula-‘positive’ group (macula+). Data relative to all the GDx parameters were examined. For each parameter, we compared the data obtained by the FCC to the VCC models. Subsequently we compared each FCC subgroup (macula+ and macula–) to VCC. Results: A total of 67 subjects entered the macula– group and 63 the macula+ group. FCC significantly overestimated the average parameters and underestimated the number, the modulation and also the ratio parameters. The only parameter showing no difference was symmetry. Similar trends were also evident when the subjects were divided into the macula+ and – subgroups. Conclusion: Individual variations of corneal birefringence, which are not completely corrected by FCC, result in over- or underestimation of retinal nerve fiber layer parameters. This measurement error cannot be eliminated, not even by only selecting patients with a uniform aspect of macular scan. For this reason GDx FCC does not seem to be an acceptable tool in the early diagnosis of glaucoma, and modern versions of this device should be preferred.

Adult-onset foveomacular vitelliform dystrophy

Background Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a condition that presents classically as bilateral, symmetrical, grayish-yellow, round or oval-shaped lesions within the macular area. These lesions are mildly elevated and are typically one third to one half disc diameter in size. The onset of the disease is usually between 30 and 50 years of age with variable genetic inheritance, although some have suggested an autosomal dominance inheritance pattern. Patients with AOFVD typically present with symptoms of blurred vision or mild metamorphopsia. Results of diagnostic testing show a normal or mildly subnormal electro-oculogram (EOG). Fluorescein angiography results (FA) typically show hypofluorescence in the area corresponding to the vitelliform lesion and a surrounding ring of hyperfluorescence. Results of optical coherence tomography (OCT) show the vitelliform lesion as being located in the retinal pigment epithelium (RPE) layer or between the RPE and photoreceptor layer. Case Reports Two cases of AOFVD are presented with each patient having different macular appearances owing to the different stage of the disease process. In case 1, a 76-year-old white man presented with stage II AOFVD characterized by typical vitelliform lesions. His best-corrected acuities were 20/70+ in the right eye (O.D.) and 20/80- in the left eye (O.S.). In case 2, a 54-year-old white man presented with stage V AOFVD with bilateral atrophic maculae with best-corrected acuities of 10/60- O.D. and 10/160- O.S. Conclusion Patients with adult-onset foveomacular vitelliform dystrophy typically have slow progressive vision loss. However, patients can develop dramatically decreased vision owing to subfoveal choroidal neovascularization (CNV). Thus, it is important to establish the correct diagnosis and monitor this condition. Furthermore, because there are reports of AOFVD having an autosomal dominance inheritance pattern with variable penetrance, it is recommended that the patient’s family members have a comprehensive eye examination to rule out any early signs of this rare eye condition.

Cone–Rod Dystrophy, Intrafamilial Variability, and Incomplete Penetrance Associated with the R172W Mutation in the Peripherin/ RDS Gene

To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 5-generation family, and to examine the phenotype and degree of intrafamilial variability. Family genetic study. Nine affected individuals from a nonconsanguineous British family. Ophthalmologic examination, color vision testing, fundus photography, autofluorescence imaging, and electrophysiological assessment were performed. The clinical notes of 2 additional deceased affected family members were also reviewed. Blood samples were taken for DNA extraction, with linkage analysis being performed, and subsequent mutation screening of the peripherin/RDS gene. Linkage analysis established a disease interval on chromosome 6p, which harbored the retinal candidate gene, peripherin/RDS. The 3 coding exons of the peripherin/RDS gene were subsequently screened for mutations in affected and unaffected family members. A nonconservative missense substitution, Arg172Trp (R172W), segregated uniquely in all affected subjects. The majority of subjects carrying the R172W peripherin/RDS mutation complained of reduced central vision starting in the second or third decade, with subsequent gradual deterioration of visual acuity and color vision. Three affected individuals complained of nyctalopia. A range of macular appearances were seen, varying from a typical granular appearance to extensive macular atrophy. Autofluorescence imaging in the majority of individuals identified a highly characteristic speckled macular appearance. All affected subjects had abnormal pattern electroretinograms (ERGs) consistent with macular dysfunction and 4 subjects showed additional full-field ERG abnormalities, providing evidence of generalized retinal dysfunction. There was marked variation in the clinical phenotype in those individuals who carried the R172W peripherin/RDS mutation, ranging from severe cone-rod dystrophy to asymptomatic individuals with normal retinal function. The Arg172Trp (R172W) peripherin/RDS mutation has been previously reported to cause a fully penetrant progressive macular dystrophy with high intrafamilial and interfamilial consistency of phenotype. This is the first report describing marked intrafamilial variation associated with this mutation, including nonpenetrance. These findings are clinically important in relation to advice on prognosis and accurate genetic counseling.

Optical Coherence Tomography Findings After an Intravitreal Injection of Bevacizumab (Avastin®) for Neovascular Age-Related Macular Degeneration

To determine whether intravitreal bevacizumab could improve optical coherence tomography and visual acuity outcomes in a patient with neovascular age-related macular degeneration who was responding poorly to pegaptanib therapy, an intravitreal injection of bevacizumab (1.0 mg) was given. Within 1 week, optical coherence tomography revealed resolution of the subretinal fluid, resulting in a normal-appearing macular contour. The improved macular appearance was maintained for at least 4 weeks, and visual acuity remained stable. No inflammation was observed. An intravitreal injection of bevacizumab may provide an effective, safe, and inexpensive option for patients with age-related macular degeneration who are losing vision secondary to macular neovascularization.

Mutation in the Gene GUCA1A, Encoding Guanylate Cyclase-Activating Protein 1, Causes Cone, Cone-Rod, and Macular Dystrophy

To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 4-generation family and to examine the phenotype and the degree of intrafamilial variability. Prospective case series. Six affected individuals from a nonconsanguineous British family. Detailed ophthalmologic examination, color fundus photography, autofluorescence imaging, and electrophysiologic assessment were performed. Blood samples were taken for DNA extraction, and mutation screening of GUCA1A, the gene encoding guanylate cyclase-activating protein 1 (GCAP1), was undertaken. All affected subjects complained of mild photophobia and reduced central and color vision. Onset was between the third and fifth decade, with subsequent gradual deterioration of visual acuity and color vision. Visual acuity ranged between 6/9 and counting fingers. Color vision was either absent or markedly reduced along all 3 color axes. A range of macular appearances was seen, varying from mild retinal pigment epithelial disturbance to extensive atrophy. Electrophysiologic testing revealed a range of electrophysiologic abnormalities: isolated cone electroretinography abnormalities, reduced cone and rod responses (with cone loss greater than rod), and isolated macular dysfunction. The 4 coding exons of GUCA1A were screened for mutations in affected and unaffected family members. A single transition, A319G, causing a nonconservative missense substitution, Tyr99Cys, segregated uniquely in all affected subjects. The Tyr99Cys GUCA1A mutation has been previously shown to cause autosomal dominant progressive cone dystrophy. This is the first report of this mutation also causing both cone-rod dystrophy and isolated macular dysfunction. The phenotypic variation described here exemplifies the intrafamilial heterogeneity of retinal dysfunction that can be observed in persons harboring the same mutation and chromosomal segment.

Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).

To describe the phenotype using electroretinography and optical coherence tomography (OCT) in members of two families with different mutations in RDS. DNA was extracted from blood samples and used for mutation screening by denaturing gradient gel electrophoresis (DGGE) and nucleotide sequencing of RDS exons. Patients were examined with clinical evaluation, full-field electroretinography (ERG), multifocal electroretinography (mfERG) and OCT. An Arg-46 --> stop codon conversion and a Ser-125 --> Leu substitution were found, respectively, in affected members of the two families. Phenotypes included retinitis pigmentosa, central areolar choroidal dystrophy, macular dystrophy and adult vitelliform maculopathy. The vitelliform lesion was clearly delineated on OCT, but mfERG showed preserved function. Optical coherence tomography showed attenuation of retinal reflectivity in two cases. By combining traditional investigations with mfERG and OCT, we were able to obtain a more refined evaluation of contributing macular and generalized retinal dysfunction, respectively, in patients with hereditary retinal disease.

Effects of preoperative and postoperative epiretinal membranes on macular hole closure and visual restoration

ObjectiveTo investigate the effects of epiretinal membranes (ERMs) on macular hole surgical results and postoperative visual restoration. DesignA subgroup analysis arising from a multicenter, controlled, randomized clinical trial. ParticipantsNinety-one phakic eyes with an idiopathic macular hole that underwent standard vitrectomy for macular hole repair with or without ERM peeling. MethodsPreoperative, intraoperative, and postoperative data of macular status, ERM status, and visual function status were recorded, and their relationships were analyzed. Main outcome measuresVisual acuity and clinical features of macular hole and ERM on baseline examination and scheduled follow-ups. ResultsERM peeling was associated with greater anatomic hole closure success rates (67% of the ERM peeled vs. 35% of nonpeeled, P = 0.03) but not associated with visual improvement in eyes with anatomic hole closure (2.9 lines improvement vs. 3.6 lines improvement, P > 0.5). Macular hole reopening was associated with excessive ERM growth (P = 0.005). Postoperative ERMs were more common in the eyes that underwent cataract surgery after vitrectomy (77% in aphakic and 36% in phakic eyes, P = 0.02). Macular hole edge approximation or hole appearance after initial vitrectomy for hole repair was stable over the average 18-month period in 89% of the eyes; only approximately 10% of the eyes underwent changes in their hole appearance. The hole edge approximation or hole appearance was associated with preoperative hole size and postoperative visual acuity. Preoperative hole size was found to be the major predictor of postoperative visual acuity (P < 0.005). ConclusionsSurgical ERM peeling increases the anatomic hole closure rate. The presence of postoperative ERMs was not associated with postoperative visual acuity; however, excessive ERM growth contributed to hole reopening. Preoperative hole size was the most sensitive predictor for postoperative visual acuity. Surgical intervention during the early stages of macular hole before ERM formation is strongly recommended.

Quantitative Assessment of Macular Appearance with a Scanning Laser Ophthalmoscope in Aging or Diabetic Retinopathy Patients

Changes in the macula caused by aging or diabetic retinopathy were studied with scanning laser ophthalmoscope (SLO). SLO imaging of the macula was done with argon blue, argon green, helium neon, and diode lasers, and the images were recorded on s-VHS video tape. In this study, we examined 29 patients (58 eyes) with no retinal organic change as controls, 8 diabetic patients (16 eyes) without retinopathy, 8 patients (16 eyes) with simple diabetic retinopathy, and 6 patients (12 eyes) with preproliferative diabetic retinopathy. As age increased, the dark area of the macula was enlarged in the argon blue and argon green images. In diabetic patients, the dark area of the macula in patients in their 30 s and 40 s with retinopathy was larger than in diabetic patients without retinopathy (p < 0.05). The dark area of the macula in preproliferative diabetic retinopathy was larger than in patients in their no diabetic retinopathy or simple diabetic retinopathy (p < 0.05). In the 50 s and 60 s, the dark area of the macula in preproliferative diabetic retinopathy was larger than in the controls or in patients with no diabetic retinopathy (p < 0.05). The macular dark area became enlarged with aging. In diabetic patients, the dark area of the macula was enlarged in diabetic patients without retinopathy or with progression in diabetic retinopathy stage. Therefore, quantitative assessment of macular appearance with SLO can be used as a new clinical index.

Long-term follow-up of unoperated macular holes

To investigate the anatomic and visual acuity outcomes among patients with unoperated macular holes and at least 5 years of follow-up. Retrospective, noncomparative case series from an institutional practice setting. All patients with unoperated full-thickness macular holes evaluated at Bascom Palmer Eye Institute between January 1, 1968 and December 31, 1993 and observed for at least 5 years. Demographic and clinical data were abstracted from patients' medical records and ophthalmologic photography records. For patients with bilateral macular holes, only one eye was included. Visual acuity and clinical features on initial examination, at 5 years, and at final follow-up. The study included 65 eyes of 65 patients with a median age of 65 years (range, 52-85 years) and a median follow-up of 9.3 years (range, 5-29 years). On initial examination at Bascom Palmer Eye Institute, the macular hole was stage 2 in 15 eyes (24%), stage 3 in 23 eyes (37%), and stage 4 in 25 eyes (40%). At final follow-up, the macular hole was stage 3 in 10 eyes (16%) and stage 4 in 53 eyes (84%). Visual acuity was 20/200 or worse in 35 eyes (54%) on initial examination, in 43 eyes (74%) at 5 years, and in 53 eyes (82%) at final follow-up. Poorer visual acuity on initial examination was a significant predictor of poorer final vision (P < 0.01). Other accompanying clinical features such as the presence of operculum, posterior vitreous detachment, and epiretinal membrane were not significantly associated with final vision. Throughout follow-up, there was a redistribution and reduced number of yellow nodular opacities at the level of the retinal pigment epithelium at the base of the macular holes and the development of retinal pigment epithelial atrophy around the macular holes. Long-term follow-up of unoperated macular holes demonstrates progression in hole size and stage, vision loss which generally stabilizes at the 20/200 to 20/400 level, a redistribution and reduced number of yellow nodular opacities at the level of the retinal pigment epithelium, and the development of retinal pigment epithelial atrophy surrounding the macular hole, resulting in a "bull's-eye" macular appearance.

Eclipse retinopathy.

Solar retinopathy is a well-recognised clinical entity of macular damage caused by viewing the sun, induced by a photochemical process. The term 'eclipse retinopathy' is frequently employed when the condition is sustained as a result of viewing a solar eclipse. Considerable public excitement had been raised in anticipation of the full solar eclipse on 11 August 1999. Whilst experience has shown that visual morbidity is likely to be temporary, current evidence is anecdotal and restricted to isolated case reports and series. This study was conducted to establish the true visual morbidity associated with a solar eclipse, and whether it was temporary or permanent. A 3 month active case ascertainment study was carried out from July to September 1999 to record cases presenting to ophthalmologists with visual symptoms arising from solar viewing. Further information about the cases was sought using a short questionnaire. A follow-up questionnaire requesting outcome data at 6 months was also employed. There were 70 reported cases of visual loss. The average age was 29.5 +/- 12.9 years. Half the cases presented to an ophthalmologist within 2 days of the eclipse. An abnormal macular appearance was reported in 84% of patients at presentation. There have been no reported cases of continued visual loss or symptoms at 6 months. This is the largest nationwide study of the visual effects of a solar eclipse ever undertaken. There were no recorded cases of permanent visual loss, which corroborates the previous evidence that visual morbidity is likely to be temporary. It would appear probable that public health education was most effective in reducing visual morbidity and hence keeping the consequent burden on the NHS to a minimum.

Color vision and genetics in a case of cone dysfunction syndrome

Tests of color vision and unique hue judgments were carried out on a patient with little cone function and abnormal macular pigmentation and optic nerve appearance. These tests revealed weak cone-based dichromatic color vision yet normal red, green, and blue unique hue judgments. In addition, rod input was found to inhibit color discrimination. Genetic analysis revealed the absence of L pigment genes, but multiple M pigment genes. A mutation that inactivates the encoded pigment was identified in a subset of the M genes. One of these genes with the mutation was in the first position of the array. Thus, these visual deficits and changes in the integrity of the inner retina may be linked to defects in the photopigment genes. © 2000 John Wiley & Sons, Inc. Col Res Appl, 26, S284–S287, 2001

Age-related macular degeneration and optic disk morphology

PURPOSE: To assess the relationship between age-related macular degeneration and appearance of the optic disk.METHOD: By morphometric evaluation of wide-angle color fundus photographs, 143 patients with age-related macular degeneration were compared with 33 normal subjects and with 83 diabetic patients.RESULTS: Size and shape of the optic disk and size of parapapillary atrophy did not vary significantly (P > .12) between the study groups.CONCLUSIONS: Age-related macular degeneration is not associated with special features in the appearance of the optic disk. Parapapillary atrophy, large or small optic disk, and abnormal disk shape are neither risk factors nor protective factors of age-related macular degeneration.

Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene

Objective: To examine the clinical phenotype of three Swedish families with Best's vitelliform macular dystrophy (BMD) and three different mutations in the recently identified bestrophin gene. Methods: Three families, including 13 patients, were examined clinically using visual acuity testing, electro-oculography, fundus inspection, and fundus photography. The mutations were previously determined by direct sequence analysis of the individual exons in the bestrophin gene. Results: The largest family (SL76), with the Y85K (T357C) mutation in the bestrophin gene, demonstrated a clinical phenotype characterized by a variable degree of visual acuity reduction and a marked intrafamilial variability in macular pathology. The electro-oculograms, however, demonstrated similar results in all patients regardless of the severity of the macular dysfunction. The smallest family (SL3), with the mutation V9A (T130C) in the bestrophin gene, and the family (SL2) with the mutation D104E (C416A) demonstrated a similar clinical phenotype. The majority of patients (11/13 examined subjects) had a binocular visual acuity of 20/63 or better at a late stage of the disease course, indicating a relatively good prognosis for visual acuity in this specific phenotype. The ophthalmoscopic changes were followed in one of the patients for 38 years and in three of the patients for 19 years and showed that the macular appearance seems to be stable after adolescence. Conclusions: Patients with BMD and mutations in the bestrophin gene have a similar clinical phenotype characterized by a variable, but relatively moderate visual acuity reduction, atrophic changes in the macula, and pathological results of the electro-oculograms. The macular appearance remains essentially unchanged through the atrophic stage (stage IV) in the majority of patients, indicating a stationary disease course associated with this specific genotype.

Foveal outer retinal function in eyes with unexplained visual symptoms or acuity loss.

To determine whether foveal outer retinal dysfunction is common in eyes with unexplained visual symptoms or acuity loss. Prospective study. Seventy-three eyes of 44 consecutive patients with unexplained visual symptoms or acuity loss, 39 eyes of 39 control subjects, and 12 eyes of 7 patients with known maculopathy. Foveal cone electroretinography (ERG) and letter recognition perimetry. Foveal cone ERG data. Abnormal foveal cone ERG data were recorded in 35 (48%) of 73 eyes (23 [52%] of 44 patients). Among these 35 eyes, amplitude was lower than in normal controls (P<.001) and was correlated with visual acuity and the number of letter recognition perimetry errors (P<.05 for both). The latter was higher in eyes with abnormal retinal responses than in symptomatic eyes with normal responses (P<.01). However, initial symptoms, visual acuity, and macular appearance did not differentiate between these 2 groups. Foveal cone ERG test vs retest data showed consistent results. Foveal outer retinal dysfunction is a common underlying mechanism of previously unexplained visual symptoms or acuity loss. Foveal cone ERG testing should be considered early in the evaluation of eyes with this presentation.

The natural history of macular pseudoholes

To report the natural history of macular pseudoholes with regard to ophthalmoscopic appearance and visual acuity. Thirty-six eyes of 34 patients with macular pseudoholes who were followed up for 1 year or longer were retrospectively evaluated to compare the initial ophthalmoscopic appearance and visual acuity with the most recent follow-up appearance and visual acuity. Mean visual acuity at initial examination was 20/32 (median, 20/30); mean follow-up visual acuity was 20/32 (median, 20/30). Fourteen eyes (39%) had identical initial and final visual acuities, and 30 eyes (83%) had final visual acuity within 2 lines on the visual acuity chart from their initial examination. Four eyes had improved visual acuity of more than 2 lines, and two eyes lost more than 2 lines of visual acuity. Thirty-one eyes had adequate initial and follow-up photographs allowing comparison of macular appearance. Twenty-three (74%) of the 31 eyes showed a definitive change in macular appearance. Visual acuity in patients with macular pseudoholes tended to remain stable. However, the macular appearance changed in 74% of eyes.

High-risk characteristics of fellow eyes of patients with unilateral neovascular age-related macular degeneration

Objective This study aimed to determine whether clinical tests of ocular function and macular appearance independently can help to predict which patients with unilateral neovascular age-related macular degeneration (AMD) will have a choroidal neovascular membrane (CNVM) develop in their fellow eye. Design The study design was a prospective cohort study. Participants One hundred twenty-seven patients with unilateral neovascular AMD observed for up to 4.5 years participated. Intervention Functional measurements included visual acuity, macular visual field, glare recovery time, and foveal electroretinogram amplitude and implicit time. Main outcome measure The age-adjusted proportion of patients having a CNVM develop over follow-up assessed by the Cox proportional hazards model with stepwise selection was measured. Results On average, 8.8% of patients had a CNVM develop each year. Independent risk factors for the fellow eye were its glare recovery time in minutes (relative risk = 1.30, confidence interval = 1.10–1.54, P = 0.003) and its extent of visible macular abnormalities on a four-point scale (relative risk = 1.62, confidence interval = 1.06– 2.59, P = 0.03). Of the fellow eyes that converted, the interval to have a CNVM develop was inversely related to the foveal electroretinogram implicit time. Conclusions A slower recovery from glare and more extensive funduscopic changes appear to be independent risk factors for the development of a CNVM in the fellow eyes of patients with unilateral neovascular AMD. A slower foveal electroretinogram implicit time may be a sign of early stage CNVM development, perhaps because of outer retinal ischemia. These results have clinical management implications, particularly for those patients at high risk of having a potentially treatable form of AMD develop.