Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.

PURPOSE: To describe the clinical and genetic findings in a patient with autosomal recessive bestrophinopathy (ARB) and his healthy parents. METHODS: The patient and his healthy non-consanguineous parents underwent detailed ophthalmic evaluations including electro-oculography (EOG), spectral-domain optical coherence tomography (SD-OCT), and fundus autofluorescence (FAF) imaging. Mutation analysis of the BEST1 gene was performed by Sanger sequencing. RESULTS: The FAF images showed multiple spots of increased autofluorescence, and the sites of these spots corresponded to the yellowish deposits detected by ophthalmoscopy. SD-OCT showed cystoid macular changes and a shallow serous macular detachment. The Arden ratio of the EOG was markedly reduced to 1.1 in both eyes. Genetic analysis of the proband detected two sequence variants of the BEST1 gene in the heterozygous state: a novel variant c.717delG, p.V239VfsX2 and an already described c.763C>T, p.R255W variant associated with Best vitelliform macular dystrophy and ARB. The proband's father carried the c.717delG, p.V239VfsX2 variant in the heterozygous state, and the mother carried the c.763C>T, p.R255W variant in the heterozygous state. The parents who were heterozygous for the BEST1 variants had normal visual acuity, EOG, SD-OCT, and FAF images. CONCLUSIONS: In a truncating BEST1 mutation, the phenotype associated with ARB is most likely due to a marked decrease in the expression of BEST1 promoted by the nonsense-mediated decay surveillance mechanism, and it may depend on the position of the premature termination of the codon created.

Clinical features of polypoidal choroidal vasculopathy and visual outcomes in the absence of classic choroidal neovascularization.

BACKGROUND/AIMS: To report on the clinical features of polypoidal choroidal vasculopathy (PCV) and to delineate visual outcomes in the absence of classic choroidal neovascularization (CNV). METHODS: Records were retrospectively reviewed of 233 eyes of 215 patients diagnosed with 'definite' PCV using Japanese criteria. RESULTS: Of patients with definite PCV, 72.1% were men and 91.6% had unilateral disease. A history of systemic hypertension was elicited in 18.1% of patients, and blood pressure measurement revealed possible hypertension in 27.4% of patients. At the initial evaluation, 28.3% of eyes had classic CNV as assessed by fluorescein angiography and were treated by photodynamic therapy or other means. Of 112 eyes with active exudation but no classic CNV and no recent decreased vision, best-corrected visual acuity (BCVA) at 3 months improved by > or = 0.2 logarithm of the minimum angle of resolution (logMAR) in 17%, was unchanged in 72% and worsened by > or = 0.2 logMAR in 11%. In 67 eyes of which 1-year data were available, BCVA improved in 19%, was unchanged in 64% and worsened in 16%. CONCLUSIONS: The majority of PCV patients were men, with a high rate of diagnosed or suspected hypertension. More than two thirds of eyes had no evidence of classic CNV, of which 89% had stable or improved vision at 3 months without specific treatment. Of eyes followed for 12 months, 83% had stable or improved vision.

Clinical Features of Japanese Patients With Anti-α-enolase Antibody-Positive Autoimmune Retinopathy: Novel Subtype of Multiple Drusen.

PURPOSE: To evaluate clinical features of Japanese patients with anti-α-enolase antibody-positive autoimmune retinopathy (anti-enolase AIR). DESIGN: Multicenter retrospective observational case series. METHODS: Forty-nine eyes of 25 Japanese anti-enolase AIR patients (16 female and 9 male; mean age at first visit, 60.8 years) were included. Fundus characteristics, perimetry, spectral-domain optical coherence tomography (SD-OCT), electroretinography (ERG), best-corrected visual acuity (BCVA), and complicating systemic tumors were assessed. Protein localization of α-enolase was examined by immunohistochemistry in an enucleated eye of 1 patient. RESULTS: Patients were classified into 3 groups: multiple drusen (48%), retinal degeneration (36%), and normal fundus (16%). Drusen varied in size from small deposits to vitelliform-like lesions. Images on SD-OCT revealed dome-shaped hyperreflectivity beneath the retinal pigment epithelium (RPE), corresponding to drusen. Perimetry showed that ring scotoma was the most frequent (39%). Rod-system and/or single-flash cone responses revealed decreased responses in 81% of the eyes. Combined rod and cone system responses demonstrated significantly lower a-wave amplitudes in the degeneration group than in the drusen group (P = .005). BCVA was improved or maintained in 80% of the eyes during follow-up. Malignant or benign tumors were detected in 30% of patients. The RPE and photoreceptor layers were immunopositive for α-enolase. CONCLUSIONS: The drusen subtype, scarcely described in the literature, is suggested to characterize Japanese patients with anti-enolase AIR. The different funduscopic features with different functional severities may have resulted from antibody-mediated damage to RPE as well as photoreceptor cells.

A case of anterior ischemic optic neuropathy associated with uveitis.

INTRODUCTION: Here, we describe a patient who presented with anterior ischemic optic neuropathy (AION) and subsequently developed uveitis. CASE: A 69-year-old man was referred to our hospital and initially presented with best-corrected visual acuities (BCVA) of 20/40 (right eye) and 20/1000 (left eye) and relative afferent pupillary defect. Slit-lamp examination revealed no signs of ocular inflammation in either eye. Fundus examination revealed left-eye swelling and a pale superior optic disc, and Goldmann perimetry revealed left-eye inferior hemianopia. The patient was diagnosed with nonarteritic AION in the left eye. One week later, the patient returned to the hospital because of vision loss. The BCVA of the left eye was so poor that the patient could only count fingers. Slit-lamp examination revealed 1+ cells in the anterior chamber and the anterior vitreous in both eyes. Funduscopic examination revealed vasculitis and exudates in both eyes. The patient was diagnosed with bilateral panuveitis, and treatment with topical betamethasone was started. No other physical findings resulting from other autoimmune or infectious diseases were found. No additional treatments were administered, and optic disc edema in the left eye improved, and the retinal exudates disappeared in 3 months. The patient's BCVA improved after cataract surgery was performed. CONCLUSION: Panuveitis most likely manifests after the development of AION.

Three-month evaluation of dorzolamide hydrochloride/timolol maleate fixed-combination eye drops versus the separate use of both drugs.

PURPOSE: To investigate the ocular hypotensive effect and safety of dorzolamide hydrochloride 1 %/timolol maleate 0.5 % fixed-combination eye drops. METHODS: The study cohort comprised 34 patients with either primary open-angle glaucoma or ocular hypertension who were being concomitantly treated with dorzolamide hydrochloride 1 % eye drops and timolol maleate 0.5 % eye drops. The dorzolamide hydrochloride 1 % and timolol maleate 0.5 % eye drops were replaced with dorzolamide hydrochloride 1 %/timolol maleate 0.5 % fixed-combination eye drops without any washout period. The intraocular pressure (IOP) was evaluated both before and 1 and 3 months after the treatment change. The patients were asked to complete a questionnaire on adherence to the treatment protocol 1 month after the change in treatment. RESULTS: The IOP was 15.5 ± 2.7 mmHg at the time of treatment change, 15.2 ± 2.7 mmHg at 1 month post-change, and 15.5 ± 2.9 mmHg at 3 months post-change, which is consistent with that before the treatment change (p = 0.286). Based on the completed questionnaire, following the treatment change, 50 % of patients felt a stinging sensation following administration of the eye drops and 11.8 % experienced blurred vision. In no case were the eye drops discontinued due to adverse reactions or insufficient IOP decrease. CONCLUSION: The replacement of concomitant treatment with dorzolamide hydrochloride 1 % and timolol maleate 0.5 % eye drops with dorzolamide hydrochloride 1 %/timolol maleate 0.5 % fixed-combination eye drops improved protocol adherence and preserved the IOP.

Iris and periocular adverse reactions to bimatoprost in Japanese patients with glaucoma or ocular hypertension.

PURPOSE: To prospectively investigate adverse reactions to bimatoprost in Japanese patients with glaucoma or ocular hypertension. We also examined patient attitudes to adverse reactions via a questionnaire. METHODS: Fifty-two Japanese patients with glaucoma or ocular hypertension were enrolled. Iridial, eyelid, and eyelash photographs were taken before and at 6 months after bimatoprost treatment. Increase in eyelid pigmentation, iridial pigmentation, eyelash growth and bristle, and vellus hair of the lid was assessed from the photographs. Questionnaires completed by patients provided insight into their subjective judgment of adverse reactions. RESULTS: Increase in eyelash bristle (53.8%), iris pigmentation (50.0%), eyelash growth (46.2%), vellus hair of the lid (40.4%), and eyelid pigmentation (7.7%) was evident after bimatoprost treatment. The objective and subjective assessments were in agreement in terms of increase in eyelash bristle, eyelash growth, and increase in vellus hair of the lid. CONCLUSION: Most patients were conscious of these adverse reactions. Before administering bimatoprost, sufficient explanation of potential adverse reactions should be provided; after initiating treatment, careful observation is required.

Outer retinal microstructure in a case of acute idiopathic blind spot enlargement syndrome.

PURPOSE: To present a patient with acute idiopathic blind spot enlargement syndrome who had abnormal changes in the outer retinal microstructure limited to areas with reduced responses on multifocal electroretinograms as well as to the area involving a scotoma. METHODS AND RESULTS: We report the case of a 44-year-old man who developed an arcuate scotoma which was associated with a physiological blind spot in the left eye. The ophthalmoscopic, fluorescein angiographic, and full-field electroretinogram findings were normal. The amplitudes of the multifocal electroretinograms were reduced in the area of the scotoma. Optical coherence tomography showed that both the external limiting membrane and the inner and outer segment (IS/OS) line were intact, but that the middle cone outer segment tip line between the IS/OS line and the retinal pigment epithelium was absent in the nasal macular area of the left eye. CONCLUSIONS: These findings indicate that the integrity of not only the external limiting membrane and IS/OS line but also the cone outer segment tip line is important for the function of the retina.

Giant pigment epithelial tear after scleral buckling for rhegmatogenous retinal detachment.

PURPOSE: To describe a patient with rhegmatogenous retinal detachment (RRD) who developed a giant tear of retinal pigment epithelium (RPE) after scleral buckling. PATIENT: A 64-year-old man with RRD underwent scleral buckling and cryoretinopexy on his right eye. RESULTS: A #506 silicone sponge was placed on the exit of the three vortex vein to seal retinal tears. On the 3 postoperative day, a choroidal detachment appeared, and on the 10 postoperative day, a large RPE developed at the posterior edge of the choroidal detachment. One month later, the entire retina was completely attached without any treatment. CONCLUSIONS: Ophthalmic surgeons should be aware that an RPE tear can be associated with choroidal detachment after scleral buckling.