Ophthalmic Features Research Articles

Ocular ultrasonography of sea turtles

BackgroundEnvironmental changes contribute to the development of ophthalmic diseases in sea turtles, but information on their eye biometrics is scarce. The aim of this study was to describe ophthalmic ultrasonographic features of four different sea turtle species; Caretta caretta (Loggerhead turtle; n = 10), Chelonia mydas (Green turtle; n = 8), Eretmochelys imbricata (Hawksbill turtle; n = 8) and Lepidochelys olivacea (Olive ridley; n = 6) under human care. Corneal thickness, scleral ossicle width and thickness, anterior chamber depth, axial length of the lens, vitreous chamber depth and axial globe length were measured by B-mode sonography with a linear transducer. Carapace size and animal weight were recorded. A sonographic description of the eye structures was established.ResultsThe four species presented an ovate eyeball, a relatively thin cornea, and a small-sized lens positioned rostrally in the eye bulb, near the cornea, resulting in a shallow anterior chamber. The scleral ossicles did not prevent the evaluation of intraocular structures, even with a rotated eye or closed eyelids; image formation beyond the ossicles and measurements of all proposed structures were possible. B-mode sonography was easily performed in all animals studied. The sonographic characteristics of the eye were similar among the four species. Since there was a correlation between the size of the eye structures and the size of the individual, especially its carapace size, the differences found between E. imbricata and Caretta caretta are believed to be due to their overall difference in size.ConclusionsSonography is a valuable tool in ophthalmic evaluation of these species. Only minor differences were found between the species in this study, reinforcing their phylogenetic proximity and their similar functions and habitats.

Anomalies of Refraction, Accommodation and Binocular Single Vision in Down Syndrome

Down syndrome is one of common chromosomal abnormalities. Many ophthalmic features are studied and reported previously. The aim of this research is to investigate and thoroughly study the anomalies of refraction, accommodation and binocular single vision(BSV) in Down syndrome along with strabismus and ocular abnormalities.

Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review.

Spinocerebellar ataxia (SCA) is a part of the cerebellar neurodegenerative disease group that is diverse in genetics and phenotypes. It usually shows autosomal dominant inheritance. SCAs, always together with the cerebellar degeneration, may exhibit clinical deficits in brainstem or eye, especially retina or optic nerve. Interestingly, autosomal dominant SCAs share a common genetic mechanism; the length of the glutamine chain is abnormally expanded due to the increase in the cytosine–adenine–guanine (CAG) repeats of the disease causing gene. Studies have suggested that the mutant ataxin induces alteration of protein conformation and abnormal aggregation resulting in nuclear inclusions, and causes cellular loss of photoreceptors through a toxic effect. As a result, these pathologic changes induce a downregulation of genes involved in the phototransduction, development, and differentiation of photoreceptors such as CRX, one of the photoreceptor transcription factors. However, the exact mechanism of neuronal degeneration by mutant ataxin restricted to only certain type of neuronal cell including cerebellar Purkinje neurons and photoreceptor is still unclear. The most common SCAs are types 1, 2, 3, 6, 7, and 17 which contain about 80% of autosomal dominant SCA cases. Various aspects of eye movement abnormalities are evident depending on the degree of cerebellar and brainstem degeneration in SCAs. In addition, certain types of SCAs such as SCA7 are characterized by both cerebellar ataxia and visual loss mainly due to retinal degeneration. The severity of the retinopathy can vary from occult macular photoreceptor disruption to extensive retinal atrophy and is correlated with the number of CAG repeats. The value of using optical coherence tomography in conjunction with electrodiagnostic and genetic testing is emphasized as the combination of these tests can provide critical information regarding the etiology, morphological evaluation, and functional significances. Therefore, ophthalmologists need to recognize and differentiate SCAs in order to properly diagnose and evaluate the disease. In this review, we have described and discussed SCAs showing ophthalmic abnormalities with particular attention to their ophthalmic features, neurodegenerative mechanisms, genetics, and future perspectives.

Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.

BackgroundSialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese patient with sialidosis type 1 has been reported. This study evaluated the phenotypes and genotypes of mainland Chinese patients with sialidosis type 1.MethodsIt was a retrospective case series study. Four unrelated patients were enrolled. Comprehensive clinical evaluations and molecular genetic analysis of the NEU1 gene were performed.ResultsThree out of four patients presented progressive myoclonus epilepsy. The best‐corrected visual acuity ranged from 20/2000 to 20/25. Punctate cataracts were found in all of the patients. Distinct macular cherry red spots were observed in three patients by fundoscopy, and a relatively normal fundus was revealed in one patient. Optical coherence tomography (OCT) showed increased reflectivity of the nerve fiber and ganglion cell layers, and fundus autofluorescence (FAF) revealed hyperautofluorescent areas surrounding the fovea in all of the patients. Only superficial retinal vessels can be observed using OCT angiography; the deeper capillary plexus could not be observed. Visual evoked potential revealed varying degrees of decreased amplitude and/or prolonged latency of P100 or P2 waves. The most frequent sequence variant identified was c.544A>G (p.S182G) (NM_000434.3).ConclusionsOur study first described the ophthalmic and neurologic characteristics of a small cohort of unrelated mainland Chinese patients with sialidosis type 1. We found that c.544A>G (p. S182G) might be a hotspot variant in Chinese patients. The accumulation of metabolic products in the nerve fiber and ganglion cell layers is a characteristic ocular finding that could be sensitively detected by OCT and FAF imaging.

Prepapillary vascular loop-a new classification.

To analyze the ophthalmic characteristics of congenital prepapillary vascular loop (PVL) and to propose a new morphologic classification dividing the loops into six types. Collaborative multinational multicentre retrospective study of PVL cases. There was a total of 49 cases (61 eyes), 37 unilateral (75.5%) and 12 bilateral (24.5%), 32 arterial type (65.3%) and 18 venous type (36.7%) (one patient had either kind in each eye). The mean number of loops per eye was 2.7 (range, 1-7). The loops were asymptomatic in 42 cases (85.7%). Other findings included: the presence of cilioretinal artery (14 cases), retinal vascular tortuosity (26 cases), amaurosis fugax (1 case), branch retinal artery occlusion (1 case) and vitreous haemorrhage (3 cases). Six morphologic loop types could be discerned based on elevation (flat vs. elevated), shape (figure of 8 or corkscrew with hyaline sheath), number (multiple or single), location (central or peripheral), lumen size (arterial vs. arteriolar) and presence of vascular tortuosity or vitreous traction. PVL are usually asymptomatic and can be divided into six morphologic types with different pathogenesis during early embryogenesis.

Primary conjunctival non-Hodgkin's marginal zone lymphoma

A 41-year-old male patient presented with conjunctival mass in both eyes since 5 years with no history of pain or visual disturbance and nonprogressive. On examination, bilateral, pinkish, freely mobile, nontender conjunctival mass noticed on both sides of cornea, with rest of the findings being normal. No lymphadenopathy. No history of systemic illness. Surgical excision biopsy with histopathological examination of conjunctival mass of both eyes was done. Report showed low-grade Extranodal non-Hodgkin's marginal zone lymphoma. As the isolated ophthalmic features of lymphoma is as such rare, there are high chances of misdiagnosing the condition with the other ocular conditions. Suspicious presentation requires a surgical excision biopsy.

Automated diabetic retinopathy detection using radial basis function

Diabetic mellitus is a major reason of visual impairment an around the world. Early automatic diagnosis of diabetic retinopathy (DR) may avoid vision loss and blindness. The goal of this paper is to automatically detect retinal image as Non DR or DR based on radial basis function (RBF) neural network classifier. This experiment address to explore ophthalmic features such as blood vessels, exudates & microaneurysms and it’s segmented from retinal background using A-IFS histon based segmentation method. This obtained feature set delivers to train RBF neural network. The Receiver operation characteristics (ROC) curve is plotted based on evaluated result. The projected experiment has been done on 130 DIARETDB0 & 89 DIARETDB1 retinal images database by using RBF neural network. The experiment perceive the accuracy of 71.2%, Sensitivity 0.83 & Specificity 0.043 for DIARETDB0 and the accuracy of 89.4% Sensitivity 0.94 & Specificity 0.16 for DIARETDB1.

Ocular characteristics of patients with cerebral palsy

Aim: The purpose of this study is to report the ophthalmic characteristics and treatment results of our cerebral palsy (CP) patients. Materials and Methods: We explored the charts of 62 CP patients who were followed by our tertiary referral pediatric ophthalmology and strabismus department between 1998-2018 retrospectively. Patient demographics, strabismus type, preoperative deviation, type of surgery, visual acuities (VA), fundus findings, first surgery time, additional surgeries and anomalies and follow-up time were recorded. Results: Mean age and follow-up time were 34.1 and 42.6 months respectively. Most of the subjects (80.6%) had bilateral VA less than 20/200. The ratio of patients without fixation and follow was 11.2% in right eye and 14.5% in left eye. Fifty eight percent of patients had normal fundus findings. The most leading finding was bilateral optic disc pallor in abnormal fundus patients (33.8%). Fifty-six (90.1%) patients had strabismus (esotropia (ET) (50%), exotropia (XT) (35.5%), vertical deviation (4.8%). Mean horizontal deviation was 25.64±8.41 (8-40) prism diopter (PD) in ET and 25.4±9.39 (12-40) PD in XT. We performed strabismus surgery to 20.9% of patients. The most frequent surgery type was bilateral medial rectus recessions. Mean first surgery time was 35.6 months. Four (30.7%) patients who had previous strabismus surgery needed additional surgery. The most frequent additional surgery types were medial rectus advancement (50%) and inferior oblique myectomy (50%). Prematurity (19.3%), epilepsy (12.9%) and corpus callosum dysplasia and periventricular leukomalacia (12.9%) were the leading encountered additional anomalies. Conclusions: CP patients are mostly accompanied with esotropia. The management of CP patients may be challenging due to need of additional surgeries.

Ocular surface evaluation using as‐oct and in vivo confocal microscopy in patients with primary sjögren’s syndrome

AbstractIntroductionDry eye disease severity is classically obtained through an evaluation of tear film stability and tear production, lid margin disease, ocular surface damage and tear osmolarity. Other parameters for severity classification are know being used for a more accurate follow‐up and managing. The purpose of this study is to evaluate the tear meniscus (TM) and corneal sub‐basal nerve plexus (SBNP) in a population with pSS, using anterior segment optical coherence tomography (AS‐OCT) and in vivo Confocal Microscopy (ivCM).Material and MethodsObservational cross‐sectional study of 50 patients with pSS and 20 healthy controls. All patients were submitted to Schirmer test I without anaesthesia, tear break‐up time and corneal fluorescein staining evaluation. Anterior segment optical coherence tomography (AS‐OCT) was used for TM height and area analysis. In vivo Confocal Microscopy (IVCM) was performed for corneal SBNP density, length and tortuosity. Differences in pSS ophthalmic features were analyzed according to phenotype profile.ResultsTM height was significantly lower in pSS in contrast to healthy controls (p < 0.001). Corneal SBNP density and length were significantly lower and tortuosity significantly higher in pSS patients (p < 0.001, p = 0.004 and p = 0.001, respectively).ConclusionThe diagnosis of Primary Sjögren’s Syndrome (pSS) is sometimes challenging, taking into account the clinical heterogeneity and diagnostic criteria fulfillment variability. AS‐OCT and IVCM may be useful in additional evaluation of lachrymal unit dysfunction in pSS.

Ophthalmic features and management outcomes of 30 children having Goldenhar syndrome.

To study the ophthalmic clinical profile and the management outcomes of children having Goldenhar syndrome (GS). Retrospective review of included children fulfilling the diagnostic criteria of GS was performed. The demography, ophthalmic features, systemic anomalies, and treatment outcomes were recorded manually from patient files. An ENT, pediatrics, cardiology, and orthopedics consultation was sought for all GS patients before taking up for any ophthalmic surgical procedure. The anatomical (ocular surface and eyelid) and functional {vision and extraocular movements (EOM)} factors were exclusively studied. We ensured a minimum postoperative follow-up of 12months, and our data were compared with the major studies featuring 'ophthalmic features' of GS. Totally 30 children (females = 18, 60%) were included with a median presenting age of 48months. Twenty-seven (90%) had unilateral ophthalmic involvement with major features being upper eyelid coloboma (n = 25, 75.76%), lipodermoid (n = 18, 54.55%), and limbal dermoid (n = 10, 30.3%). Diminution of visual acuity was recorded in 22 (73.3%), while five (16.7%) had limitation of EOM. Systemically, the prominent features included hemifacial hypotrophy (100%), auricular anomalies (80%), cardiac anomalies (10%), and scoliosis (6.67%). The eyelid colobomas were repaired with the direct closure ± cantholysis technique or using a Tenzel's flap. All children had satisfactory anatomical and functional outcomes after ophthalmic surgical interventions without any significant complications. The tailored ophthalmic surgical intervention(s) provides satisfactory restoration of anatomy and functionality of the eye. These children need specific multi-discipline consultations for the holistic management and complete care.

Quality of Life Concerns in Patients with Uveal Melanoma after Initial Diagnosis

Background: Patients with uveal melanoma (UM) are known to have quality of life (QOL) issues after treatment, but QOL concerns after initial diagnosis are ill-defined. Objectives: We studied the QOL concerns of patients with UM after initial diagnosis to identify factors associated with QOL. Method: Between September 2011 and May 2016, UM planning to undergo radiotherapy completed the European Organization for Research and Treatment of Cancer (EORTC) core quality of life questionnaire (QLQ)-C30, as well as the Ophthalmic Oncology module, QLQ-OPT30. Demographic, ophthalmic, and tumor related characteristics were recorded. The primary outcome was the QOL score and fraction of patients reporting any or severe symptoms. A multiple stepwise regression model investigated the association of demographic, ophthalmic, and tumor characteristics with QOL. Results: QOL concerns were assessed in 201 subjects. The majority (51/60) of QOL items had a high response rate (≥90%), and internal consistency on scales (median Cronbach α = 0.85) with the most common severe QOL concern being worry about disease recurrence (41%). The most common ophthalmic symptoms reported were vision impairment (81%) and ocular irritation (66%). Multivariable regression modeling demonstrated several significant associations. Conclusions: Severe worry about UM recurrence, ocular irritation, and vision impairment was reported by many patients. Clinicians should be aware of these concerns and implement management strategies.

Ophthalmic features of HIV associated cryptococcal meningitis in Malawian Adults: an observational study

Background: Cryptococcal meningitis (CM) is the commonest neurological complication in patients with advanced HIV. Visual disturbance is a frequent presenting symptom. Papilloedema is commonly reported but other ophthalmic findings are not well described. Methods: We performed an observational study comparing severely immunocompromised HIV-infected patients with and without CM to determine the nature and prevalence of retinal pathology attributable to CM. 70 adult patients were enrolled in Blantyre Malawi, 35 with CM and 35 HIV-infected patients without CM. Results: 79% (19/24) of CM patients examined on day one had evidence of retinal abnormalities compared to 17% (6/35) of HIV-infected controls (p <0.001). In the CM group, retinal whitening was the commonest abnormality (50%), followed by optic disc swelling (29%), haemorrhage (25%) and vascular abnormalities (7%). Retinal whitening was the only abnormality observed in the comparator group (17%). In CM, there was no significant difference between those with and without retinal abnormalities in fungal burden (13,550 cfu/ml vs. 9,150 cfu/ml; p = 0.65), CD4 count (28 cells/µl vs. 76 cells/µl; p = 0.79) or CSF opening pressure (21cm H20 vs. 27cm H20; p = 0.5). There was no association between presence/absence of retinal abnormalities and death (40% 10-week mortality vs. 26%; p = 0.6). Conclusions: Whether the presence of CM retinopathy could be used as a marker of disease severity warrants further investigation. The observed ophthalmic findings provide a descriptive framework for CM retinopathy to be utilised in future CM studies. Trial registration: ISRCTN (ISRCTN45035509) 19/06/2012.

Orbital Vasculitides-Differential Diagnosis.

The orbit is subject to a variety of vascular insults that manifest with both specific and nonspecific patterns of vision compromise. The aim of the following review is to highlight the ophthalmic clinical features of systemic vasculitides that most frequently involve the orbit and differentiate them from the most common non-vasculitic orbital disorders. New studies continue to explore the autoimmune nature of vasculitic disease and seek to determine optimal use of newer therapies such as biologic agents. The pattern of ocular involvement in the context of clinical history allows the knowledgeable physician to distill a differential diagnosis into a specific or likely cause. Establishing a diagnosis in a timely fashion allows for a custom-tailored approach to therapy.

Marfan syndrome in childhood: parents\u2019 perspectives of the impact on daily functioning of children, parents and family; a qualitative study

BackgroundMarfan syndrome (MFS) is a heritable connective tissue disease caused by a defect in FBN1. The diagnosis is based on the revised Ghent criteria. The main features involve the cardiovascular, musculoskeletal, ophthalmic, pulmonary systems and facial features. Although the clinical manifestations of MFS in children are thoroughly addressed in several studies, literature on the impact of MFS on daily functioning is restricted to pediatric advice on sports and leisure participation. Therefore, the full impact of MFS on daily functioning remains unclear. The aim of this qualitative study was to explore parents’ perspectives on the impact of MFS on daily functioning of children with MFS aged 4–12 years, themselves and family regarding functional performance, activities, participation, personal and environmental factors, and disease burden.MethodsIn this qualitative study parents participated in individual semi-structured interviews (n = 10) and 3 focus groups (n = 5, n = 5 and n = 6). Meetings were transcribed, and data were analyzed using thematic analysis. Meaningful concepts were coded, and concepts concerning children with MFS were linked to the International Classification of Functioning, Disability and Health for Children and Youth. Thereafter themes were identified and interpreted.ResultsParents reported their children could not keep up with peers because of fatigue, pain and physical impairments. Children experienced participation restrictions in school, sports, play and other leisure activities. Parents reported their child as being different due to physical appearance, which provoked unsupportive attitudes. Parental burden was caused by high care needs, lack of support, a limited social life, and concerns about the child’s development. Family burden was caused by adjusted and complex family schedules, other family members with MFS, and reproductive planning decision-making, whereas family cohesiveness and caring were positively perceived factors.ConclusionsParents perceived a large impact of MFS on daily functioning of their children with MFS, themselves and their family. More awareness among all professionals involved in the care of children with MFS and their families is needed so that professionals can address their support needs and provide tailored interventions, rehabilitation and/or educational programs to empower and improve daily functioning of the children, parents and family.

Ophthalmic features of HIV associated cryptococcal meningitis in Malawian Adults: an observational study

Background: Cryptococcal meningitis (CM) is the commonest neurological complication in patients with advanced HIV. Visual disturbance is a frequent presenting symptom. Papilloedema is commonly reported but other ophthalmic findings are not well described. Methods: We performed an observational study comparing severely immunocompromised HIV-infected patients with and without CM to determine the nature and prevalence of retinal pathology attributable to CM. 70 adult patients were enrolled in Blantyre Malawi, 35 with CM and 35 HIV-infected patients without CM. Results: 79% (19/24) of CM patients examined on day one had evidence of retinal abnormalities compared to 17% (6/35) of HIV-infected controls (p <0.001). In the CM group, retinal whitening was the commonest abnormality (50%), followed by optic disc swelling (29%), haemorrhage (25%) and vascular abnormalities (7%). Retinal whitening was the only abnormality observed in the comparator group (17%). In CM, there was no significant difference between those with and without retinal abnormalities in fungal burden (13,550 cfu/ml vs. 9,150 cfu/ml; p = 0.65), CD4 count (28 cells/µl vs. 76 cells/µl; p = 0.79) or CSF opening pressure (21cm H20 vs. 27cm H20; p = 0.5). There was no association between presence/absence of retinal abnormalities and death (40% 10-week mortality vs. 26%; p = 0.6). Conclusions: Whether the presence of CM retinopathy could be used as a marker of disease severity warrants further investigation. The observed ophthalmic findings provide a descriptive framework for CM retinopathy to be utilised in future CM studies. Trial registration: ISRCTN (ISRCTN45035509) 19/06/2012.

The Ocular Phenotype in Primary Hyperoxaluria Type 1

To investigate ophthalmic features in a large group of patients with primary hyperoxaluria type 1 (PH1) and to determine the relation between ocular involvement and systemic disease severity. Retrospective, cross-sectional, multicenter study of the OxalEurope Registry Network. Sixty-eight patients with PH1 were included. Infantile PH1 was diagnosed in 12 patients, and non-infantile PH1 was diagnosed in 56 patients (17with end-stage renal disease). Ophthalmic examination included best corrected visual acuity (BCVA) testing and multimodal retinal imaging, including fundus photography and optical coherence tomography (OCT). In selected cases, fundus autofluorescence imaging was performed. All eyes (n= 24) of infantile PH1 patients revealed severe retinal alterations and oxalate deposits, including macular crystals and hyperpigmentations (n= 9, 38%), and subretinal fibrosis (n= 15, 63%) with (n= 7, 47%) or without (n= 8; 53%) associated chronic retinal edema. In 9 eyes (38%, all with subretinal fibrosis), BCVA was significantly reduced (<20/50 Snellen equivalent). In contrast, all eyes (n= 112) of patients with non-infantile PH1 had a BCVA in the normal range (median, 20/20). Only 6 patients with non-infantile disease (11%, all with end-stage renal disease) showed mild, likely PH1-related retinal features. These deposits appeared as focal hyperreflective subretinal lesions on OCT imaging and were hyperautofluorescent on autofluorescence images. Severe ocular alterations occur in infantile cases, whereas mild or no ocular alterations are typical in non-infantile PH1 patients. The natural history of (sub)retinal oxalate deposits, the pathogenesis of subretinal fibrosis, and exact factors influencing the overall severity of ocular disease manifestation remain to be determined.

Prevalence of Pigment Dispersion Syndrome in Patients Seeking Refractive Surgery.

To determine the prevalence of pigment dispersion syndrome (PDS) in patients presenting for vision correcting refractive surgery. Discover Vision Centers, Kansas City, MO. This is a prospective case series. A total of 637 eyes of 319 serial patients who presented seeking refractive surgery were included in this prospective, observational study. Patients underwent routine ophthalmologic examination before refractive surgery. PDS was diagnosed by the presence of a deep anterior chamber, posterior bowing of the irides, Krukenberg spindles, and/or presence of mid-peripheral iris transillumination defects by the same experienced ophthalmologist. The prevalence of PDS and its associated ophthalmic and demographic characteristics were evaluated in those diagnosed. Of the 637 eyes, 165 (25.9%) eyes were diagnosed with PDS. Krukenberg spindles were present in 53 (8.3%) of the total eyes and in 47 (28.5%) eyes that were diagnosed with PDS. Transillumination defects were present in 153 (95%) eyes diagnosed with PDS and 161 (25.2%) total eyes. There was equal distribution between sex in those diagnosed with PDS (male vs. female: 26 vs. 25.8%; P=0.942). Blue colored eyes were most likely to have PDS (35.8% of patients). The prevalence of PDS within the population of patients seeking refractive surgery is likely greater than the general population as a whole. This is most likely the result of self-selection and high association between myopia and PDS. Given that not infrequent sequela can occur from untreated PDS, it is prudent that refractive surgeons be aware of this increased prevalence and perform thorough examinations to properly identify the condition.

Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome.

To evaluate the ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome. In total, 13 patients with suspected or clinically diagnosed Wolfram syndrome underwent ophthalmic and systemic examinations and genetic analyses for Wolfram syndrome between August and October 2018. The mean age of the subjects was 24.2 ± 7.1 years, of which 5 (38.5%) subjects were male and 8 (61.5%) were female. The mean best-corrected visual acuity ranged from counting fingers to 20/40, with a mean of 20/250 (1.10 ± 0.69 logarithm of the minimum angle of resolution). Dyschromatopsia was present in all patients (100%). There was a severe decrease in the average peripapillary retinal nerve fiber layer and macular ganglion cell-inner plexiform layer thicknesses (54.7 ± 6.5 and 51.9 ± 4.8 µm, respectively). Optical coherence tomography angiography showed significantly lower whole-image, inside disk, and peripapillary vessel densities in the patients with Wolfram syndrome than in the healthy controls (p < 0.001 for all). All patients who underwent genetic analyses had mutations in the WFS1 gene. Moreover, two novel mutations, p.Met623Trpfs*2 (c.1867delA) and p.Arg611Profs*9 (c.1832_11847del16) at exon 8, were detected. The frequency of systemic findings was as follows: optic atrophy (100%), diabetes mellitus (92.3%), central diabetes insipidus (38.5%), sensorineural hearing loss (38.5%), and presence of urological (30.8%), psychiatric (30.8%), and neurological (23.1%) diseases. Wolfram syndrome is a rare genetic disorder that can be associated with severe ophthalmic and systemic abnormalities. All patients who present with unexplained optic atrophy should be evaluated for Wolfram syndrome, even if they do not have diabetes mellitus because optic atrophy can sometimes manifest before diabetes mellitus.

Neurofibromatosis Type 2-Related Eye Disease Correlated With Genetic Severity Type.

Neurofibromatosis type 2 (NF2) is an uncommon but well-recognized disorder characterized by multiple schwannomas and meningiomas. Adults typically present with hearing loss and balance disturbance, and children with ocular, dermatological, and neurological signs. Clinical diagnosis is confirmed by neuroimaging and genetic testing. Although ophthalmic features are present in patients with NF2, there are no reports correlating genetic severity subtypes with ophthalmic involvement. We retrospectively reviewed longitudinal ophthalmological data of 83 patients with NF2, with known genetic severity subtype, to determine visual function over time. We created a scoring system (Oxford NF2 Ophthalmic Score [ONOS]) to quantify visually debilitating pathology. The prevalence of optic atrophy, combined hamartomas, cataract, and epiretinal membranes significantly increased with genetic severity. Median age of survival to visual acuity worse than 1.0 logarithm of minimum angle of resolution in one eye significantly decreased with genetic severity and was 38 years in the genetically severe group, 49 years in moderate classics, 64 years in mild classics, and 84 years in the tissue mosaics. In the genetically severe, the visually damaging pathologies were largely untreatable. The ONOS correlated with genetic severity longitudinally and cross-sectionally. Mutations associated with severe systemic disease result in greater visual morbidity at an earlier age. Those with tissue mosaicism are unlikely to have visually debilitating pathology secondary to NF2. Potentially treatable sources of damage to vision, however, affect all groups and must be identified early and treated effectively to retain useful vision throughout life.

Ophthalmologic Clinical Features of Facial Nerve Palsy Patients.

PurposeTo understand the ophthalmic clinical features and outcomes of facial nerve palsy patients who were referred to an ophthalmic clinic for various conditions like Bell's palsy, trauma, and brain tumor.MethodsA retrospective study was conducted of 34 eyes from 31 facial nerve palsy patients who visited a clinic between August 2007 and July 2017. The clinical signs, management, and prognosis were analyzed.ResultsThe average disease period was 51.1 ± 20.6 months, and the average follow-up duration was 24.0 ± 37.5 months. The causes of facial palsy were as follows: Bell's palsy, 13 cases; trauma, six cases; brain tumor, five cases; and cerebrovascular disease, four cases. The clinical signs were as follows: lagophthalmos, 24 eyes; corneal epithelial defect, 20 eyes; conjunctival injection, 19 eyes; ptosis, 15 eyes; and tearing, 12 eyes. Paralytic strabismus was found in seven eyes of patients with another cranial nerve palsy (including the third, fifth, or sixth cranial nerve). Conservative treatments (like ophthalmic ointment or eyelid taping) were conducted along with invasive procedures (like levator resection, tarsorrhaphy, or botulinum neurotoxin type A injection) in 17 eyes (50.0%). Over 60% of the patients with symptomatic improvement were treated using invasive treatment. At the time of last following, signs had improved in 70.8% of patients with lagophthalmos, 90% with corneal epithelium defect, 58.3% with tearing, and 72.7% with ptosis. The rate of improvement for all signs was high in patients suffering from facial nerve palsy without combined cranial nerve palsy.ConclusionsThe ophthalmic clinical features of facial nerve palsy were mainly corneal lesion and eyelid malposition, and their clinical course improved after invasive procedures. When palsy of the third, fifth, or sixty cranial nerve was involved, the prognosis and ophthalmic signs were worse than in cases of simple facial palsy. Understanding these differences will help the ophthalmologist take care of patients with facial nerve palsy.