Retinal Dots Research Articles

Prevalence Rates of Diabetic Retinopathy and Undiagnosed Diabetes Among Delaware Nursing Home and Assisted Living Facility Residents.

Objectives: To determine the prevalence of diabetic retinopathy and undiagnosed diabetes among Delaware nursing home and assisted care facility residents. Methods: This cross-sectional study involved the statistical analysis of comprehensive eye examination records of 2,063 nursing home residents residing in 18 facilities and 4 assisted living facilities in Delaware from 2005 to 2009. Descriptive statistical analyses were conducted to identify the rates of retinal dot and blot hemorrhages and existing systemic diabetes diagnoses. Results: The mean age of nursing home and assisted care facility residents was 77 years (range 9-104), and 64.4% were over the age of 80. Most residents were female (61.1%) and white (72.5%). 3.6% of the 2,063 nursing home residents had blot or dot hemorrhages in one or both eyes. 32.8% had a type 1 or type 2 diabetes diagnosis. Of the ones with a positive dot and blot hemorrhage finding, 56.8% had a diagnosis of diabetes, and 43.2% did not. Discussion: There was a high prevalence of dot and blot hemorrhages without a systemic diagnosis of diabetes, indicating a need for regular eye care among residents.

A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).

The c.1430A > G (Asp477Gly) variant in RPE65 has been reported in Irish and Scottish families with either an autosomal dominant retinal dystrophy (adRD) that resembles choroideremia, a vitelliform macular dystrophy or an isolated macular atrophy. We report novel features on multimodal imaging and the natural history of a family harbouring this variant in combination with the BEST1 c.37C > T (Arg13Cys) variant. Members of a family with an adRD were examined clinically to ascertain phenotype and underwent genetic testing. Multimodal imaging included widefield colour fundus photography, quantitative autofluorescence (qAF) and spectral domain optical coherence tomography. Electrophysiology and microperimetry were also performed. Vision loss was attributed to foveal atrophy in the proband and choroidal neovascularisation and a vitello-eruptive lesion in one affected son. Peripheral retinal white dots corresponding to subretinal deposits were seen in three patients. The median qAF8 values in the proband (I:1) were low (40 and 101 in OD and OS) at age 79. Similarly, the qAF8 values for the middle son (II:2) were also low (100 and 87 in ODS and OS) at age 60. Electrophysiology showed disproportionate reduction in Arden ratio prior to the gradual loss of full-field responses. Microperimetry demonstrated an enlarging scotoma in the proband. The coexistence of the pathogenic BEST1 c.37C > T variant may modify clinical features observed in RPE65 adRD. This study expands our understanding of RPE65 adRD as a retinoid cycle disorder supported by the reduced qAF, fine white retinal dots and corresponding subretinal deposits on OCT in affected members.

Retinal changes in COVID-19 hospitalized cases.

The main objective of this study was to evaluate the retinas of severely or critically ill COVID-19 patients during their hospital stay, at varying time points after symptoms onset. This was a case series observed during May 2020 in two referral centers for COVID-19 treatment in Rio de Janeiro, Brazil. 47 eyes from 25 hospitalized patients with severe or critical confirmed illness were evaluated. A handheld retinal camera was used to acquire bilateral fundus images at several time points after symptoms onset. Electronic health records were retrospectively analyzed and clinical data collected. Severe and critical diseases were noticed in 52% (13/25) and 48% (12/25) of enrolled patients, respectively. Retinal changes were present in 12% (3/25) of patients: a 35 year-old male demonstrated bilateral nerve fiber layer infarcts and microhemorrhages in the papillomacular bundle, but required mechanical ventilation and developed severe anemia and systemic hypotension, acute kidney injury and neurologic symptoms during the course of the disease (critical illness); a 56 year-old male, who required full enoxaparin anticoagulation due to particularly elevated D-dimer (>5.0 mcg/mL), demonstrated unilateral and isolated flame-shaped hemorrhages; and a 49 year-old hypertensive male showed bilateral and discrete retinal dot and blot microhemorrhages. The other 22 patients evaluated did not demonstrate convincing retinal changes upon examination. There was no correlation between disease severity and admission serum levels of CRP, D-dimer and ferritin. This was the first study to show that vascular retinal changes may be present in not insignificant numbers of severe or critical COVID-19 inpatients. These retinal changes, only seen after morbid developments, were likely secondary to clinical intercurrences or comorbidities instead of a direct damage by SARS-CoV-2, and may be important and easily accessible outcome measures of therapeutic interventions and sentinels of neurologic and systemic diseases during COVID-19 pandemic.

Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations.

PurposeTo investigate the natural history in patients with LRAT-associated retinal degenerations (RDs), in the advent of clinical trials testing treatment options.MethodsA retrospective cohort of 13 patients with LRAT-RDs.ResultsTwelve patients from a genetic isolate carried a homozygous c.12del mutation. One unrelated patient carried a homozygous c.326G>T mutation. The mean follow-up time was 25.3 years (SD 15.2; range 4.8–53.5). The first symptom was nyctalopia (n = 11), central vision loss (n = 1), or light-gazing (n = 1), and was noticed in the first decade of life. Seven patients (54%) reached low vision (visual acuity < 20/67), four of whom reaching blindness (visual acuity < 20/400), respectively, at mean ages of 49.9 (SE 5.4) and 59.9 (SE 3.1) years. The fundus appearance was variable. Retinal white dots were seen in six patients (46%). Full-field electroretinograms (n = 11) were nondetectable (n = 2; ages 31–60), reduced in a nonspecified pattern (n = 2; ages 11–54), or showed rod–cone (n = 6; ages 38–48) or cone–rod (n = 1; age 29) dysfunction. Optical coherence tomography (n = 4) showed retinal thinning but relative preservation of the (para-)foveal outer retinal layers in the second (n = 1) and sixth decade of life (n = 2), and profound chorioretinal degeneration from the eighth decade of life (n = 1).ConclusionsLRAT-associated phenotypes in this cohort were variable and unusual, but generally milder than those seen in RPE65-associated disease, and may be particularly amenable to treatment. The window of therapeutic opportunity can be extended in patients with a mild phenotype.Translational RelevanceKnowledge of the natural history of LRAT-RDs is essential in determining the window of opportunity in ongoing and future clinical trials for novel therapeutic options.

Acute Retinopathy in Pseudoxanthoma Elasticum

Acute retinopathy may partly explain variable disease manifestation and vision loss in patients with pseudoxanthoma elasticum (PXE). The diagnosis of this likely autoimmune process may inform patient counseling and treatment approaches. To characterize acute retinopathy in patients with PXE as a disease manifestation that may be associated with profound visual impairment. This single-center case series was conducted from May 2013 to October 2018. It used the patient database of the Department of Ophthalmology at the University of Bonn, a referral center for PXE in Germany. Patients at this center with genetically confirmed PXE and who met the inclusion criteria were included (n = 9). Patients underwent multimodal retinal imaging, including fundus photography, fundus autofluorescence (AF), optical coherence tomography (OCT), fluorescein angiography (FA), and indocyanine green angiography (ICGA); in select cases, electroretinography as well as antiretinal and anti-retinal pigment epithelium (RPE) antibody testing were also used. Clinical presentation and disease course. Nine patients (8 [89%] female; mean [range] age, 43 [19-55] years) with acute retinopathy were identified in a cohort of 167 consecutive patients with PXE (frequency of 5%). Symptoms ranged from light sensations or metamorphopsia to profound vision loss. Visual acuity was reduced in 6 patients (67%), ranging from a best-corrected visual acuity of 20/30 to perception of hand movements at manifestation. All patients revealed characteristic fundus features with temporary appearance of partly confluent outer retinal whitish dots at the posterior pole, which corresponded to areas of hyperautofluorescence on fundus AF, loss of the ellipsoid band on OCT, and associated scotomata. The FA and late-phase ICGA imaging showed associated hyperfluorescence and hypocyanescence. Electroretinography revealed a variable reduction of amplitudes. Changes were fully reversible within 1 month in 3 of 8 patients with available follow-up data. Of the remaining 5 patients, 3 had a prolonged and likely permanent vision loss (observation period, 1-64 months) mainly owing to central subretinal hyperreflective material originating from angioid streaks. In 4 (67%) of 6 tested, antiretinal and/or anti-RPE antibodies were detected. Acute retinopathy in patients with PXE may occur, with symptoms ranging from short-term, reversible alterations to irreversible vision loss; these findings contribute to understanding the variable ocular disease progression in PXE and provide insights into the autoimmune phenomena of the posterior pole.

Retinal and Choroidal Changes of Vitreoretinal Lymphoma from Active to Remission Phase after Intravitreal Rituximab

ABSTRACT Purpose To identify main qualitative and quantitative changes by spectral-domain optical coherence tomography (SD-OCT) in eyes with vitreoretinal lymphoma (VRL) shifting form active to remission phase, after intravitreal rituximab (IVR). Methods SD-OCT scans retrospectively assessed for: hyperreflective retinal dots (HRD), intraretinal infiltration, subretinal infiltration, outer retina (OR) fuzzy borders, and pigment epithelium detachments (PED).Central macular thickness (CMT) and choroidal thickness (CT) were measured. These features were examined in active and in remission phase. Results Eighteen eyes of nine patients enrolled. Patients received 5.3 ± 2.1 IVR according to a 2-weekly or monthly schedule. In remission phase, presence of HRD (p = 0.02), intraretinal infiltration (p = 0.02), OR fuzzy borders (p = 0.01) significantly reduced. Treatment frequency did not influence rate of disappearance of these features. CMT (p = 0.04) and CT (P = 0.004) became thinner. Conclusions Signs referable to lymphoma-induced inflammation (CMT, CT, HRD) and infiltration (intraretinal infiltrates, OR fuzzy borders) decreased in remission phase. Further comparative studies needed to identify the specific role of IVR in inducing these changes.

Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.

Assessment of ten Egyptian patients with Sjögren-Larsson syndrome (SLS) detected; unusual clinical manifestations, a first report of brain atrophy in SLS, some patients exhibited neither retinal dots nor white matter changes previously reported as essential manifestations. We identified five mutations in ALDH3A2 gene including a novel one and suggest a founder effect. Sjögren-Larsson syndrome is a rare autosomal recessive inborn error of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase and result in a triad of ichthyosis, spasticity, and mental retardation. Clinical, radiological, biochemical, and neurophysiological evaluation in ten SLS patients descending from seven unrelated Egyptian pedigrees was followed by Sanger sequencing of ALDH3A2 performed by ABI 3500. All patients presented with SLS triad; ichthyosis, spasticity of four limbs and hyperreflexia with an intelligent quotient (IQ) ranging from (39 to 69). Other manifestations were dysmorphic features, seizures, and skeletal and ophthalmological affection. Mutational analysis of ALDH3A2 gene revealed three missense, one splice site, and one novel stop codon mutation; c.991G>T (p.E331X). Biochemical studies showed decrease of fatty aldehyde dehydrogenase activity. Our results reinforce the distinct clinical, radiological, and biochemical features of ALDH3A2-related SLS which are the clue for targeted molecular testing. Moreover, we present additional unreported clinical findings and a novel mutation thus expanding the phenotypic and mutational spectrum of this rare disorder.

Acute unilateral maculopathy associated with adult onset of hand, foot and mouth disease: a case report

BackgroundTo report the case of a 31-year-old patient with Hand, Foot and Mouth Disease (HFMD) and concurrent acute monocular maculopathy, and to describe multimodal imaging findings never before described including optical coherence tomography angiography (OCT-A).Case presentationNine days after the onset of clinically highly probable but not laboratory-verified HFMD, a 31-year old male noticed a central scotoma, distorted lines and loss of visual acuity (Snellen visual acuity 20/400) in his right eye. Funduscopy revealed focal alterations in the retinal pigmented epithelium (RPE) and yellow retinal dots corresponding to focal dots of decreased fundus autofluorescence (FAF) surrounded by increased FAF. Spectral domain optical coherence tomography (SD-OCT) demonstrated irregularities in the ellipsoide zone, hyperreflective dots above the RPE and RPE thickening. Fundus fluorescein angiography (FAG) revealed central hypofluorescence in the macular area in the early phase, as well as increasing focal hyperfluorescence in the late phase corresponding with RPE defects observed in FAF. Indocyanine green angiography (ICGA) showed central hypofluorescence in the early and late phase, corresponding with areas of reduced flow in the choroidea and choriocapillaris as apparent in OCT-A. Visual acuity improved within 3 months without any systemic or local therapy. At his three-month follow-up, SD-OCT revealed subtle subretinal fluid that resolved spontaneously over time. No signs of choroidal neovascularization were observed. Twelve months following the onset of symptoms Snellen visual acuity was 400/400. Multimodal imaging revealed subtly changed, decreased FAF while the choroidal architecture recovered completely as demonstrated by OCT-A.ConclusionsHFMD-associated maculopahty is an uncommon but important differential diagnosis of chorioretinitis with macular involvement. The prognosis can be good and the initially observed morphological pathologies such as impaired perfusion of the choroidal vessels can recover spontaneously over a period lasting 12 months. OCT-A can be employed as a non-invasive tool to detect the reduced perfusion of the choroidal vessels and for monitoring the disease course.

Optical Coherence Tomography of Adult-Onset Foveomacular Vitelliform Dystrophy Concomitant with Diabetic Cystoid Macular Edema

Purpose: To report an unusual appearance on Spectralis optical coherence tomography (OCT) finding: bilateral adult-onset foveomacular vitelliform dystrophy (AFVD) concomitant with diabetic cystoid macular edema. Case Description: Fundus examination of a 55 year-old patient demonstrated a round, elevated yellowish lesion centered by a pigmented spot, widespread intraretinal microaneurysms and dot-blot hemorrhages with a small number of hard exudates in the both eyes. OCT scans of both eyes disclosed that the foveal retina was raised by a hyperreflective material which was located between the retina pigment epithelium and the photoreceptor layer with a persistent posterior hyaloid attachment, exerting adhesion on the fovea in the both eyes. Moreover, multiple hyperreflective retinal dots which had shadowing effects and cystoid macular edema without subretinal fluid were revealed in OCT images. Additionally, fundus autofluorescence (FAF) imaging demonstrated that the vitelliform lesions were hyper-autofluorescence in the fovea which were compatible with accumulation of lipofuscin while the hemorrhages were seen as hypo-autofluorescence dots in both eyes. Conclusion: Diabetic cystoid macular edema may rarely accompany AFVD; OCT and FAF are helpful diagnostic imaging techniques to identify this condition.

Spectral-Domain Optical Coherence Tomography Findings in Lipemia Retinalis

Severe hypertriglyceridemia can give rise to a fundus appearance with whitish-colored retinal vessels called lipemia retinalis. A 52-year-old man with hypertriglyceridemia presented with a best-corrected visual acuity of 20/20 in both eyes and creamy-white retinal vessels on fundus. Spectral-domain optical coherence tomography (SD-OCT) revealed hyperreflective and engorged retinal vessels and white dots mainly accumulated in the inner nuclear and ganglion cell layer. Follow-up fundus examination after plasmapheresis sessions revealed normal retinal vessels. The hyperreflective appearance of the retinal vessels in OCT reversed rapidly 5 days after the treatment, whereas hyperreflective dots in retina disappeared slowly in 3 months. OCT is useful in demonstrating inner retinal changes associated with lipemia retinalis at histopathological level. The hyperreflective dots in inner retina associated with leakage from superficial retinal capillaries attested the correlation of their location with their origin. [Ophthalmic Surg Lasers Imaging Retina. 2016;47:589-592.].

A Case of Posterior Reversible Encephalopathy Syndrome with Bilateral Visual Impairment

Purpose: To report a case of recovery of bilateral cortical blindness in a patient with posterior reversible encephalopathy syndrome. Case summary: A 46-year-old female visited the ophthalmology department due to abrupt visual acuity decrease. Ten days earlier, she had received conservative management due to anemia caused by menorrhagia and uterine prolapse. She underwent a gynecological operation to remove a uterine myoma two days previously, and was given a blood transfusion postoperatively because of excessive bleeding. After the transfusion, she complained of acute blurred vision. Her best corrected visual acuity (BCVA) was hand motion 10 cm in both eyes. There were no abnormal specific findings except retinal dot hemorrhage at the temporal side in the left eye on fundus examination. Her pupillary light reflex was normal and optical coherence tomography examination was unremarkable in both eyes. However, flash visual evoked potential findings showed reduced P100 amplitude in both eyes and she was diagnosed with posterior reversible encephalopathy syndrome based on brain magnetic resonance imaging. After close observation without any treatment, the symptoms gradually improved. Finally, her BCVA recovered to 1.0 and P1 and P100 amplitudes were restored to normal range in both eyes at 16 weeks from the first diagnosis. Conclusions: A patient complained of bilateral visual loss without other neurological symptoms after chronic blood loss and blood transfusion. She recovered visual acuity completely with prompt diagnosis of posterior reversible encephalopathy syndrome and close observation only. J Korean Ophthalmol Soc 2016;57(9):1498-1505

Classification, clinical pattern, multimodal imaging

AbstractTo suggest a clinical distinction between idiopathic typical polypoidal choroidal vasculopathy (PCV) and secondary polyps associated with late AMD and its therapeutic application.Retrospective case series of 30 eyes of 30 consecutive patients (xx females and xx males) with PCV. Initial diagnosis was based on SLO‐ICGA, associated with FA and EDI SD‐OCT, which allowed a clinical distinction between two subtypes of polyps. This multimodal imaging and visual acuity testing were repeated then at regular follow‐up visits. The central macular and choroidal thickness, presence and number of hyper‐reflective dots in retina and in choroid were also evaluated.The two groups were clinically different, based on demographic and ethnical characteristics, imaging findings and topography of lesions, presence of drusen, of true CNV, and changes in choroidal thickness. Therapeutic response was different in the two groups. After treatment, hyper‐reflective dots decreased significantly but choroidal morphology did not change significantly. Functional and anatomical changes after treatment are analyzed and discussed.The clinical distinction between idiopathic typical PCV and secondary polyps associated with late AMD and results of treatment, sugges

Spectral domain optical coherence tomographic findings of bietti crystalline dystrophy.

We analyzed the OCT features of 24 eyes of 12 patients with Bietti crystalline dystrophy (BCD) with the Heidelberg HRA2-OCT. Seventeen of 24 eyes were in intermediate stage of the disease and seven in advanced stage of the disease at the time of latest OCT examination performed in 2014. Outer retinal tubulations and retinal hyperreflective dots were present in 20 of 24 eyes. The remaining four eyes had advanced disease with very thin retina. Appearance of bright plaque on top of RPE-Bruch membrane was present in all eyes. Choroidal hyperreflective spots were noted in 19 of 24 eyes. The remaining five eyes had advanced disease stage with very thin choroid. Mean central macular thickness was 163.08 μm ± 62.52 for all eyes (170.35 μm ± 56.46 in eyes with intermediate disease and 145.42 μm ± 77.2 in eyes with advanced disease). Mean subfoveal choroidal thickness was 95.37 μm ± 55.93 for the study eyes (116.47 ± 46.92 μm in eyes with intermediate disease and 44.14 μm ± 42.43 in eyes with advanced disease). Choroidal hyperreflective spots were noted in 21 of 24 eyes (87.5%). SD-OCT shows the disease progression in retinal and choroidal layers delicately in eyes with BCD and expands our knowledge about the ongoing disease process.

Retinal Dot Hemorrhage and Internal Limiting Membrane Injury during Epiretinal Membrane Peeling

Retinal Dot Hemorrhage and Internal Limiting Membrane Injury during Epiretinal Membrane Peeling

Síndrome Sjögren - Larsson

Sjogren – Larsson syndrome is a rare autosomal recessively inherited neurocutaneous disorder which occurs with 100% penetrance and is classically characterized by ichthyosis, spasticity and mental handicap. The disease is caused by mutations in the aldehyde dehydrogenase gene. The ocular manifestations are highly characteristic bilateral, glistening yellow-white retinal dots from the age of 1 to 2 years onward. The number of dots increases whit age. The extent of the macular abnormality does not correlate with the severity of the ichthyosis [...]

The use of SD-OCT in the differential diagnosis of dots, spots and other white retinal lesions.

To demonstrate the utility of a retinal imaging technique using spectral domain optical coherence tomography (SD-OCT) for creating a B-scan layer-by-layer analysis to aid in the differential diagnosis of various retinal dots, spots, and other white lesions. Review. A retrospective review of imaging studies performed with SD-OCT (Topcon, 3DOCT-2000, Oakland, NJ) at SUNY State College of Optometry. B-scan layer-by-layer analysis and unique SD-OCT reflectivity patterns of the following retinal white lesions are reviewed in the order of their retinal layer localization: myelinated nerve fiber layer, cotton wool spot, exudates, edema residues, drusen, fundus albipunctatus, Stargardt disease, Bietti crystalline dystrophy, punctate inner choroidopathy (PIC), presumed ocular histoplasmosis syndrome (POHS), post-photocoagulation chorioretinal scarring, and osseous choristoma. The reviewed images demonstrate the utility of SD-OCT in the identification of the unique characteristics of the presented retinal pathologies. SD-OCT is ideal for retinal layer localization of lesions, thus enhancing the differential diagnosis of retinal dots, spots, and other white lesions. Even though true pathognomonic patterns are rare, highly suggestive findings of certain retinal abnormalities often facilitate immediate recognition and diagnosis.

The Phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from Mutation ofRPE65and Differentiation from Leber Congenital Amaurosis

To describe in detail the characteristic clinical phenotype and electrophysiological features of Severe Early Childhood Onset Retinal Dystrophy (SECORD) caused by mutation of RPE65. Ophthalmological examination, color fundus photography, visual field testing, detailed electrophysiological assessment, and screening of RPE65 were undertaken in five subjects. Selected patients also had spectral domain optical coherence tomography. All five patients had life-long, extremely poor night vision. Variable degrees of nystagmus were present; three cases lacked nystagmus at the time of assessment. Bilateral disc drusen were evident in three subjects. While case 1 had an undetectable electroretinogram and features supporting a diagnosis of Leber congential amaurosis (LCA) as an infant, her level of acuity and function into the second decade of life was more consistent with SECORD. In two cases, both vision and electrophysiological responses were seen to improve into the second decade of life. The objective demonstration of improved retinal function over time, with electrophysiological testing, has not been previously reported. Cases 4 and 5 had evidence of fine white retinal dots. The authors propose that these represent abnormal accumulations of retinyl esters, as has been demonstrated in animal models, and has also been observed as lipid droplets within the retinal pigment epithelium (RPE). These white dots were seen to fade with time in the patients and were replaced by RPE changes. The identification of patients with mutations in RPE65 has attained greater significance now that gene replacement trials have begun. The features presented in this article assist in the recognition of this form of LCA/SECORD.

Kjellin Syndrome: Long-term Neuro-ophthalmologic Follow-up and Novel Mutations in the SPG11 Gene

Kjellin's syndrome is a hereditary neuro-ophthalmologic syndrome. We describe the clinical phenotypes of 7 patients, identifying the responsible mutations for 4 of them. A 10-year ophthalmologic and neurologic follow-up of 5 patients allowed us to describe the disease's characteristics, early symptoms and progression, associated ocular signs, and retinal changes in carriers. Retrospective clinical study and molecular genetics investigation. The records of 7 patients with Kjellin's syndrome were analyzed retrospectively. All patients underwent full neurologic and ophthalmologic examinations. The neurologic examinations included assessments of initial symptoms, intelligence quotient tests, psychologic tests, and either magnetic resonance imaging or computed tomography. The ophthalmologic examinations included visual acuity on an Early Treatment Diabetic Retinopathy Study chart, intraocular pressure color vision assessment, slit-lamp and fundus examination, Goldmann perimetry, fundus autofluorescence, optical coherence tomography and fluorescein angiography, electro-oculography, electroretinography, and flash visual evoked potentials. Direct sequencing of the SPG11 and SPG15 genes and gene-dosage analysis for the former were performed for 4 of these index patients. Identification of new mutations in the SPG11 gene, validating its implication in Kjellin's syndrome. The first signs appear before the age of 10 years, with late verbal development and difficulty running and walking. Life expectancy is between 30 and 40 years. The secondary ophthalmologic symptoms only moderately affect visual acuity. In addition to the classic symptoms, 3 of the 7 patients displayed small whitish lens opacities, and 3 neurologically unaffected parents (father or mother), all heterozygous carriers, exhibited whitish retinal dots. All the patients who were tested carried SPG11, not SPG15, mutations. Neurologic signs of SPG11 mutations emerge in early infancy, with walking and language difficulties. Onset of paraplegia occurs at the end of the first decade or during the second decade. Retinal changes, an integral part of SPG11 mutations in this series of patients, are only observed once the paraplegia has become apparent.

Microvascular retinal changes in patients presenting with acute coronary syndromes

Background Retinal microvascular changes predict cardiovascular morbidity and mortality independent of classical risk factors. However, it is unclear which retinal changes characterize patients with established coronary artery disease (CAD), and in particular, with acute coronary syndromes (ACS). The aim of the present preliminary study was to assess retinopathy in these patients. Methods 43 consecutive patients with ACS and 19 consecutive patients with stable CAD were investigated. Among the patient group with ACS, 20 patients presented with ST-Elevation Myocardial Infarction (STEMI) and 23 patients presented with Non-STEMI (NSTEMI). Standardized protocols were used and retinal fundus photography was taken within 48 h post-coronary angiography to assess retinopathy and general arteriolar narrowing as arterio-venous ratio (AVR). Clinical and laboratory cardiovascular risk factors were recorded. Results Despite comparable age and comparable frequency of diabetes and hypertension, patients with ACS had a much higher likelihood for retinal microaneurysms and dot bleedings than patients with stable CAD (17 (40%) vs. 1 (5%) patients, OR 11.77; 95%CI 1.43–96.59; p = 0.006). Performing multivariate analysis, this association remains significant (OR 20.5, 95%CI 1.6–255, p = 0.019). CAD patients presented more often with focal signs of arteriovenous nicking / focal vasoconstriction (10 (53%) vs. 9 (21%) patients, OR 4.2; 95%CI 1.31–13.4; p = 0.018), however after multivariate analysis this association lost significance. The AVR was comparably low in both groups. Conclusion Patients with ACS present more often with dot bleedings and microaneurysms. These findings provide preliminary evidence that retinal fundus examination may be useful to contribute to the risk profile of patients, enabling a more intensive survey and care.

Syphilitic Punctate Inner Retinitis in Immunocompetent Gay Men

To describe the features of an unusual syphilitic uveitis syndrome in a cluster of homosexual patients. Retrospective case series. Five consecutive patients diagnosed with syphilitic retinitis in our Melbourne uveitis clinic over a period of 8 months. The case notes of patients diagnosed with syphilitic retinitis were reviewed and the clinical features are presented and discussed. Description of retinal findings and documentation of any associated sequelae. All patients were homosexual men. Two were human immunodeficiency virus positive. None of the patients had been previously diagnosed with syphilis, although 3 presented with systemic symptoms and signs of secondary syphilis. All patients had marked anterior uveitis and vitritis. All patients had acute retinal arteriolitis and inner retinitis, with distinctive, inner retinal and preretinal white dots. These retinal findings were remarkably similar in all patients, and resolved with little or no sequelae after standard systemic treatment for syphilis, combined with oral prednisolone. Syphilitic retinitis may be an increasingly common clinical problem, reflecting the growing incidence of syphilis among homosexual men in Australia. Our patients showed stereotypical ocular and systemic features, which are useful in differentiating this condition clinically from other types of acute posterior uveitis, such as necrotizing viral retinitis. Proprietary or commercial disclosure may be found after the references.