MACULAR MORPHOLOGY AFTER MACULAR HOLE SURGERY USING THE INVERTED INTERNAL LIMITING MEMBRANE FLAP TECHNIQUE.

PURPOSE: To investigate the influence of an excess inverted internal limiting membrane (ILM) flap that covers the fovea in idiopathic macular hole surgery on postoperative visual acuity and macular morphology. METHODS: This retrospective study included 66 patients with an idiopathic macular hole who underwent vitrectomy using the inverted ILM flap technique. They were divided into three groups: normal morphology (N), detached ILM (D), or ILM proliferation (P) in the parafoveal area. They were followed up for at least 6 months, and their best-corrected visual acuity, central retinal thickness, and parafoveal retinal thickness were measured. RESULTS: There were no significant differences in preoperative or postoperative mean best-corrected visual acuities or postoperative CRTs among the groups. The postoperative inferior parafoveal retinal thicknesses were 319.2 ± 38.0, 377.1 ± 60.6, and 373.1 ± 67.3 µ m in the N, D, and P groups, respectively (P vs. D group, P = 0.963; P vs. N group, P = 0.008; N vs. D group, P = 0.004). CONCLUSION: Regardless of the postoperative morphology of the inverted ILM flap, there was no effect on postoperative best-corrected visual acuity or CRT.

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.

Inherited retinal diseases (IRDs) comprise a phenotypically and genetically heterogeneous group of ocular disorders that cause visual loss via progressive retinal degeneration. Here, we report the genetic characterization of 1210 IRD pedigrees enrolled through the Japan Eye Genetic Consortium and analyzed by whole exome sequencing. The most common phenotype was retinitis pigmentosa (RP, 43%), followed by macular dystrophy/cone- or cone-rod dystrophy (MD/CORD, 13%). In total, 67 causal genes were identified in 37% (448/1210) of the pedigrees. The first and second most frequently mutated genes were EYS and RP1, associated primarily with autosomal recessive (ar) RP, and RP and arMD/CORD, respectively. Examinations of variant frequency in total and by phenotype showed high accountability of a frequent EYS missense variant (c.2528G>A). In addition to the two known EYS founder mutations (c.4957dupA and c.8805C>G) of arRP, we observed a frequent RP1 variant (c.5797C>T) in patients with arMD/CORD.

A subset of cone bipolar cells expresses the Na+ channel SCN2A in the human retina.

Some bipolar cells in the human retina are known to express voltage-gated Na+ channels. However, it is unclear which types of channels are expressed, and whether Na+ channel expression is limited to specific types of bipolar cells. In the present study, we examined the types of voltage-gated Na+ channels expressed in human bipolar cells and the morphology of bipolar cells with voltage-gated Na+ currents. To investigate the expression of voltage-gated Na+ channels in human bipolar cells, we examined whether Na+ channel transcripts could be detected in single bipolar cells using the reverse transcription polymerase chain reaction (RT-PCR) technique. The voltage-gated Na+ current was recorded from isolated bipolar cells using the patch-clamp recording technique. Types of bipolar cells that have the Na+ currents were investigated by analyzing their morphology after staining with Lucifer yellow. Using RT-PCR, the SCN2A Na+ channel was detected in 5 of 6 isolated bipolar cells. This suggests that a subset of human bipolar cells expresses the SCN2A Na+ channel. Under voltage-clamp conditions, depolarizing voltage steps induced a fast transient inward current in cone bipolar cells with axon terminal boutons that stratified at the ON layer, which includes the stratum 3, 4, and 5 of the inner plexiform layer (IPL, n = 2/11 cells). The fast transient inward current of isolated bipolar cells was blocked by 1 µM of tetrodotoxin (TTX), a voltage-gated Na+ channel blocker. No fast transient inward current was recorded with axon terminals that stratify at the OFF layer, which includes stratum 1 and 2 of the IPL (n = 4). Thus, a subset of ON cone bipolar cells at least expresses the putative voltage-gated Na+ channel SCN2A in the human retina. The Na+ channels in the bipolar cells may serve to amplify the release of neurotransmitter, glutamate, when membrane potential is rapidly depolarized and thereby selectively accelerating light responses.

Unilaterally extinguished electroretinograms in an eye with normal visual acuity and visual field.

PURPOSE: This study reports a case of unilateral retinopathy with extinguished full-field ERGs (ffERGs), wherein the visual acuity was 16/16 and the visual field was spared. METHODS: Observational case report. RESULTS: A 39-year-old female had developed nyctalopia in her left eye. Two years later, she visited an ophthalmologist who noted a bilaterally reduced pigmentation of the fundus. Her best-corrected visual acuity was 16/16 in both the eyes. Goldmann perimetry demonstrated that her visual field was bilaterally fully spared. ffERGs measurement was performed in accordance with the ISCEV standard protocol and indicated that her right eye was normal. However, all ERG responses were severely attenuated in her left eye. Multifocal ERG responses were found to be normal in the right eye and extinguished in the left eye except for residual responses that were exclusively located at the center. During the 7 years of the follow-up period, the visual field in the left eye, which was once normal, became shaded, and the development of a ring scotoma was identified. The visual field in the right eye is still full. CONCLUSIONS: The pathogenesis of this patient's condition still remains unknown, while unilateral retinitis pigmentosa, unilateral pigmentary retinopathy, acute zonal occult outer retinopathy, and autoimmune retinopathy can all be considered as possible explanations. The uniqueness of this case study is that the extinguished ERG responses are predictive of the functional alteration in the affected eye, when the initial visual acuity and the visual field were normal.

The influence of mild cataract on ISCEV standard electroretinogram recorded from mydriatic eyes.

PURPOSE: To investigate the effect of mild cataract and its surgery on the ISCEV standard electroretinogram (ERG) by comparing pre- and postoperative ERGs elicited from fully dilated eyes. METHODS: Twenty-two patients participated. Each eye had cataract of grade 2 according to Emery-Little classification. None had complications during and after phacoemulsification and intraocular lens implantation. According to the ISCEV standard, pre- and 1-week postoperative full-field ERGs, dark adapted (DA) 0.01, DA 3, DA 3 oscillatory potentials (OPs), DA 10, and light adapted (LA) 3, and LA 3 flicker, were elicited from fully dilated eyes using skin electrodes. Photopic negative response (PhNR) 1 amplitude was measured from the baseline to the trough before the i-wave in the LA 3 ERG waveform. Statistical analysis was performed using SigmaPlot version 11.0 (Systat Software, Inc., San Jose, CA, USA). Pre- and postoperative data were compared using a paired t-test. Non-normally distributed data were evaluated using the Wilcoxon signed rank test. RESULTS: The pre- and 1-week postoperative amplitudes in each component were as follows: DA 0.01: 48.4 ± 19.5 µV and 57.1 ± 20.0 µV (p = 0.002), a-wave of DA3: 51.5 ± 14.8 µV and 58.3 ± 17.3 µV (p = 0.003), b-wave of DA3: 88.3 ± 27.5 µV and 101.5 ± 29.7 µV (p = 0.003), DA 3 ΣOPs (sum of DA 3 OP1, OP2, and OP3 amplitude): 30.7 ± 16.3 µV and 37.1 ± 21.9 µV (p < 0.001), a-wave of DA 10: 65.5 ± 18.8 µV and 74.2 ± 19.5 µV (p < 0.001), b-wave of DA 10: 95.5 ± 29.6 µV and 111.1 ± 29.9 µV (p < 0.001), a-wave of LA 3: 7.2 ± 2.6 µV and 8.2 ± 2.2 µV (p = 0.025), b-wave of LA 3: 30.6 ± 12.9 µV and 35.3 ± 12.7 µV (p = 0.003), PhNR1: 5.8 ± 2.5 µV and 5.5 ± 2.6 µV (p = 0.562), and LA 3 flicker: 25.4 ± 8.9 µV and 27.8 ± 8.6 µV (p = 0.039), respectively. The implicit time of all the components did not reveal significant differences before and after surgery. CONCLUSIONS: Cataractous lens removal and intraocular lens implantation may influence ISCEV standard ERGs, even if the cataract is relatively mild.

Mechanism of atopic cataract caused by eosinophil granule major basic protein.

Atopic cataracts develop under the ages of 40 years, after which visual acuity rapidly declines. However, the mechanism underlying the development of atopic cataracts is not yet clear. We focused on the eosinophil granule major basic protein (MBP), which was detected in the aqueous humor of atopic cataracts previously, and which was cytotoxic. Specifically, we investigated its origin in this fluid and its effects on lens epithelial cells (LECs). MBP immunostaining was positive in atopic cataract-derived LECs, but negative in age-related cataract-derived LECs. MBP mRNA was not detected in either type of cataract, but protein was detected in the aqueous humor. Furthermore, the flare values associated with atopic cataracts were higher than those with age-related cataracts. When MBP was purified from eosinophils or recombinant MBP was added to LEC culture medium, cell viability decreased in a concentration-dependent manner, but an MBP antibody neutralized the cytotoxic effect of this protein towards these cells. These results were consistent with the flow of MBP into the aqueous humor from the blood due to a compromised blood-aqueous barrier. Thus, MBP could further penetrate the lens capsule and adhere to LECs, resulting in decreased cell viability and the development of atopic cataracts.

Adherence to face-down and non-supine positioning after macular hole surgery.

BACKGROUND: This study aimed to investigate patient adherence to face-down positioning (FDP) and non-supine positioning (NSP) following vitrectomy with gas tamponade for treating macular holes (MHs). METHODS: Nursing records of 92 patients who underwent vitrectomy with gas tamponade for small-diameter (diameter < 400 µm) MHs during April 2016-June 2017 were examined. Forty-seven and 45 patients were instructed to maintain FDP and NSP (FDP and NSP groups), respectively. Patient adherence was evaluated seven times a day for 3 days, and the adherence rate was calculated. RESULTS: The mean adherence rate was significantly higher in the NSP group (99.3% ± 2.7%) than in the FDP group (93.7% ± 13.3%; P < 0.001, Mann-Whitney U test). Forty-one patients (91.1%) in the NSP group had an adherence rate of 100%, which was significantly higher than that in the 24 patients in the FDP group (51.1%; P < 0.001, chi-squared test). No statistically significant difference was observed between the patients in the two groups regarding sex, age, MH diameter, and pre- and postoperative visual acuities. MH closure was achieved in all patients. CONCLUSIONS: Almost half of the patients in the FDP group did not obtain 100% adherence rate, suggesting that patient adherence was largely compromised. Patient adherence was better in the NSP group as patient compliance to NSP was better, however, 8.9% of patients were found in face-up positioning at least once. Incompleteness of patient adherence was common, although to differing degrees.

A late foveal response component of multifocal electroretinograms in healthy subjects.

PURPOSE: To investigate the characteristics of the late foveal response component (lfrc) that presents on the first slice of the second-order kernel (K2.1) in multifocal electroretinograms (mfERGs). METHODS: mfERGs with 37 hexagonal stimulus elements were obtained from 27 healthy subjects under a stimulus intensity of 2.67 cds/m2, base rate of 75 Hz, and a net recording time of 1 min 49.2 s, using bipolar contact lens electrodes. The responses on the centermost hexagon (with a diameter of 4.5°-5.2°) were designated as foveal mfERGs. RESULTS: The foveal mfERG of the first-order kernel (K1) was shaped similarly to the K1 of the surrounding mfERGs. The foveal mfERG of K2.1 differed from the K2.1s of the surrounding mfERGs. This difference varied among subjects; however, the potential (0.34 ± 0.10 µV: mean ± SD) of the lfrc acutely changed at approximately 50 ms (range 48.56 ± 1.02-56.86 ± 1.99 ms). Whereas the amplitudes of the other major components of K1 and K2.1 significantly decreased with increasing refractive error, the amplitude of lfrc was not significantly correlated with refraction in this cohort. CONCLUSIONS: The lfrc was obtained only on the centermost hexagon within an appropriate recording time (<2 min). This finding reflects the particular structure and peculiar adaptiveness of the fovea, a specialized area of the human retina, and enables the estimation of foveal function in clinical practice.

Cystoid macular edema associated with iridocorneal endothelial syndrome: a case report.

BACKGROUND: Iridocorneal endothelial (ICE) syndrome occurs mainly in young and middle-aged women and typically presents as a unilateral disease characterized by abnormalities of the iris and corneal endothelium. While the ICE syndrome is known to be associated with glaucoma and bullous keratopathy, to our knowledge, only two cases of ICE syndrome complicated with cystoid macular edema (CME) have been reported to date. In this paper, we report a case of ICE syndrome complicated with CME treated at our institution. CASE PRESENTATION: The subject was a 51-year-old woman. In October 2013, she was examined by a primary care physician for blurred vision in her left eye. Dyscoria and abnormality of the corneal endothelium were observed, and the patient was diagnosed with ICE syndrome. In November of the same year, she was referred to our institution with a decrease in visual acuity and CME, both in her left eye. At initial examination, her best corrected decimal visual acuity was 1.0 (Snellen equivalent: 20/20) in the right eye and 0.5 (20/40) in the left eye. Intraocular pressure was 12 mmHg in both eyes. She was diagnosed with Cogan-Reese syndrome based on marked ectropion uveae, peripheral anterior synechia, and abnormalities of the corneal endothelium. Marked CME was observed on ophthalmoscopy and optical coherence tomography. A topical non-steroidal anti-inflammatory drug (nepafenac 0.1 %) was applied to the left eye four times daily from January 2014. Four weeks later, the CME had resolved and her visual acuity was 1.0 (20/20). CONCLUSION: While non-steroidal anti-inflammatory drugs and steroids did not appear to be effective in two previously reported cases of ICE syndrome complicated with CME, topical nepafenac was effective in this case. However, more such cases are needed before concluding that topical nepafenac is effective in this situation.

Leber Hereditary Optic Neuropathy Associated with Bilateral Macular Holes.

Leber hereditary optic neuropathy (LHON) causes visual loss, predominantly in healthy young men. We recently examined a patient who previously had bilateral macular holes and subsequently developed LHON at 74 years of age. Although his central scotomas were initially attributed to the macular holes, his visual acuity declined following an initial improvement after operative closure of the macular holes; thus, other diagnoses, including LHON, were considered. Furthermore, macular optical coherence tomography (OCT) images remained unchanged in this time. A mitochondrial genetic analysis identified a 11778G→A mutation. From this case, we propose that LHON remains in the differential diagnosis even in older patients, as has previously been reported.

COMPLIANCE WITH THE FACE-DOWN POSITIONING AFTER VITRECTOMY AND GAS TAMPONADE FOR RHEGMATOGENOUS RETINAL DETACHMENTS.

PURPOSE: To determine the compliance with the face-down positioning (FDP) of the patients who had undergone vitrectomy and gas tamponade. METHODS: One hundred and twenty-seven patients, 45 females and 82 males, who had undergone primary vitrectomy and gas tamponade for rhegmatogenous retinal detachments were studied. The FDP score was determined as 4 per day for 3 days after the surgery. The patient was given a score of one if the nurse found that the patient was in the FDP and zero if not in the FDP. A perfect FDP score was 12. RESULTS: The mean ± SD FDP score was 10.2 ± 1.8 with a range of 3 to 12. Females (10.7 ± 1.2) scored significantly higher than males (9.9 ± 2.1) (Mann-Whitney U test: P < 0.05). Patients who scored a perfect 12 were 38 (29.9%; female, 14:31.1%; male 24:29.3%). Low scorers <8 were all males (12:14.6%) and no females (0:0.0%). Age did not seem to be related. Only 1 patient failed to achieve retinal attachment, although she had scored a perfect 12. CONCLUSION: The compliance was considerably varied among patients. Some patients failed nearly or more than half times, and they were mostly males. The significance of the FDP to treat rhegmatogenous retinal detachment needs to be examined in a further investigation.

A Case of Bilateral Optic Nerve Head Drusen-Induced Inferior Altitudinal Hemianopsia.

The current case involved a 59-year-old woman who was referred to our hospital with bilateral optic nerve abnormality and gradually progressive bilateral inferior visual field defects. An ophthalmological examination revealed superficial optic nerve head drusen (ONHD) and bilateral inferior altitudinal hemianopsia, but no intracranial lesions. The results of an angiogram revealed no evidence of retinal vascular occlusion or anterior ischaemic optic neuropathy (AION). Prior reports suggested that drusen-induced hemianopsia was slowly progressive but that ONHD-induced AION caused acute altitudinal hemianopsia, which led us to the diagnosis of bilateral drusen-induced altitudinal hemianopsia.

Vitreoretinal interface abnormalities in fellow eyes of patients with a macular hole.

Objectives: This study aimed to determine the incidence of bilateral macular holes (MHs), and to investigate the incidence and characteristics of retinal abnormalities in the fellow eyes, using high-definition optical coherence tomography (OCT). Methods: Medical records from 724 consecutive patients diagnosed with full-thickness MHs, who underwent surgery at Fujita Health University Hospital from May 2015 to March 2022, were retrospectively reviewed. Based on the exclusion criteria, 658 patients with idiopathic MHs were included. B-scan OCT images of the fellow eyes were used to identify vitreoretinal interface abnormalities, such as MHs, epiretinal membranes (ERMs), vitreomacular traction syndrome (VMTS) and lamellar macular holes (LMHs). Results: The mean age of the patients was 65.9±9.0 years. There were 292 males (44.4%) and 366 females (55.6%). There were 39 fellow eyes with MHs (5.9%), 77 with ERMs (11.7%), 32 with VMTS (4.9%) and 11 with LMHs (1.7%). Thirty-four fellow eyes (5.2%) could not be classified and 469 fellow eyes were normal (71.3%). Furthermore, the 39 bilateral MHs were divided into four stages according to the Gass classification, as follows: stage 1, 32 eyes (82.1%); stage 2, none (0%); stage 3, 5 eyes (12.8%); and stage 4, 2 eyes (5.1%). Conclusions: Vitreoretinal interface abnormalities, such as MHs, ERMs, VMTS and LMHs, are more common in the fellow eyes of patients with MHs than in the healthy population. The fellow eyes of patients with MHs should be carefully followed using OCT.

Cerebral Venous Sinus Thrombosis with Bilateral Optic Disc Swelling and Bilateral Sixth Nerve Palsies in the Absence of Headache: A Case Report.

Introduction: We report a case of cerebral venous sinus thrombosis (CVST) that presented with bilateral optic disc swelling and diplopia in the absence of headaches. Case Presentation: A 54-year-old woman with no relevant medical history presented with a 2-week history of diplopia and no loss of visual acuity in each eye. Eye movements revealed bilateral abduction deficits, and fundoscopic examination revealed bilateral optic disc swelling. Non-contrast computed tomography of the head showed no abnormalities. Magnetic resonance venography revealed the absence of flow in the superior sagittal and left transverse sinuses as a consequence of thrombosis. The patient was diagnosed with intracranial hypertension associated with abducens nerve palsies secondary to CVST and was initiated on anticoagulant therapy. CVST can lead to stroke even in younger individuals. Conclusion: CVST should be considered in differential diagnosis when bilateral papilledema and abducens nerve palsies are present, even in the absence of headache or other neurological findings.

A Case of Autism Spectrum Disorder with Perforated Keratomalacia due to Vitamin A Deficiency.

We report a case of a patient with autism spectrum disorder (ASD) and perforated keratomalacia secondary to vitamin A deficiency. A 6-year-old boy complained of difficulty in opening the eyelids. The ocular conjunctiva was hyperemic and keratinized with purulent ocular (eye) discharge. Both corneas showed epithelial defects with hypopyon. The serum vitamin A level was ≤5 IU/dL (normal 97-316), leading to a diagnosis of xerophthalmia and keratomalacia due to vitamin A deficiency. Intramuscular injection of vitamin A (50,000 IU/day), as well as oral administration of multivitamin (containing 2,500 IU of vitamin A) and zinc supplement at 50 mg/day, allowed him to open both eyes and show interest in tablet devices 14 days after the diagnosis. During the course of the treatment, corneal perforation was observed, but it was closed without contact lens wear or amniotic patch and managed with vitamin A replacement therapy and antimicrobial eye drops. The epithelium extended to the area of the right cornea that had been melted, and although scarring corneal opacity remained, there were no obvious signs of infection. Early diagnosis is difficult because children with ASD do not express complaints, and vitamin A deficiency should be considered in patients with a severely unbalanced diet and complaints of difficulty opening the eyelids.

Comparison of ocular morphological measurement by wide-angle echography and magnetic resonance imaging.

Objectives: To compare the eye axial length (AL), equatorial horizontal diameter (HD), and equatorial vertical diameter (VD) of normal eyes using a novel wide-angle, arc-scanning, ultrasound diagnostic device for wide-angle B-mode echography. Methods: In this cross-sectional study, wide-angle B-mode echography and magnetic resonance imaging (MRI) were conducted on 22 normal eyes; the AL, HD, and VD were measured. Results: The mean ALs were as follows: wide-angle B-mode echography, 25.22±1.47 mm and MRI, 25.24±1.46 mm; a significant correlation was observed between the two measurements (ß=0.995 [0.976, 1.013]; p<0.001; 95% R2=1.00). The mean HDs were as follows: wide-angle B-mode echography, 22.33±0.84 mm and MRI, 22.55±0.90 mm; a significant correlation was observed between the two measurements (ß=0.902 [0.750, 1.179]; p<0.001; 95% R2=0.81). The mean VDs were as follows: wide-angle B-mode echography, 22.77±0.91 mm; and MRI, 22.88±0.92 mm; a significant correlation was observed between the two measurements (ß=0.966 [0.853, 1.097]; p<0.001; 95% R2=0.93). Conclusions: There were no significant differences in the measurements for each parameter by wide-angle B-mode echography and MRI. Therefore, wide-angle B-mode echography permits accurate visualization of ocular morphology.

Inverse pattern of photoreceptor abnormalities in retinitis pigmentosa and cone-rod dystrophy.

PURPOSE: To determine the characteristics of the photoreceptor abnormalities in retinitis pigmentosa (RP) and cone-rod dystrophy (CRD). METHODS: We evaluated the photoreceptor abnormalities using spectral-domain optical coherence tomography (SD-OCT) in 28 patients with RP and 17 patients with CRD. The OCT images and full-field electroretinograms were obtained from 21 eyes in normal subjects who were age-matched to patients with RP and CRD and served as controls. RESULTS: Eyes with RP and CRD had markedly decreased rod responses (6.5 and 57.5 % of normal value), maximal responses (9.6 and 51.6 %), cone (16.5 and 25.8 %), and 30-Hz flicker responses (17.8 and 30.1 % of normal value), and their P values were smaller than 0.0003. On comparison of ERG data between RP and CRD, they had statistically significant differences in rod responses (P < 0.0003) and maximal responses (P < 0.0003). However, there were no statistical differences in cone response and a weak difference in 30-Hz flicker responses (P < 0.017). The best-corrected visual acuity was -0.03 ± 0.09 (logMAR, mean ± standard deviation [SD]) in eyes with RP, but 0.57 ± 0.54 in eyes with CRD. SD-OCT showed that eyes with RP had an intact reflective line at the junction between the photoreceptor inner and outer segment (IS/OS) at the fovea, while eyes with CRD had no IS/OS. The extent of the central visual field was correlated with the IS/OS length at the macula in eyes with RP. CONCLUSION: The distribution patterns of the IS/OS line help to differentiate between RP and CRD.

Modified inverted internal limiting membrane flap technique for macular hole closure.

PURPOSE: To investigate the efficacy of modified internal limiting membrane (ILM) flap technique combined with vitreous surgery for treating macular holes and examine the outcomes in visual function and anatomic macular hole closure. STUDY DESIGN: Retrospective, observational. METHODS: Between July 1, 2015, and October 1, 2019, the modified inverted ILM flap technique combined with vitreous surgery was used to treat idiopathic macular holes, postoperative progression was then followed for at least 6 months in 96 participants (98 eyes). We modified the method by removing the lower half of the ILM while peeling and inverting the upper half. The mean age of the participants was 65.9 ± 11.9 years (41 men (42.7%) and 55 women (57.3%)). Retrospective evaluations of macular hole diameter, corrected visual acuity, and macular hole closure rates were performed using data from medical records. RESULTS: The mean macular hole diameter was 623.6 ± 207.4 µm. The mean corrected visual acuity (logMAR) was 0.79 ± 0.27 before surgery and 0.46 ± 0.35 at 1, 0.35 ± 0.39 at 3, and 0.31 ± 0.36 at 6 months Post surgery, showing significant differences before and after surgery (p = 2.30 × 10- 2). The macular hole closure rate was 98%. CONCLUSION: The modified inverted ILM flap technique combined with vitreous surgery was an effective method for treating macular holes, resulting in improvement in closure and visual acuity.

A Case of Fabry Disease with Central Retinal Artery Occlusion.

We report a case of Fabry disease diagnosed after recurrent cerebral infarction in a patient with central retinal artery occlusion (CRAO). A 23-year-old man presented with vision loss in his right eye (20/2000), showing CRAO. There was no identified cause for the loss of vision; however, corneal verticillata was detected in both eyes on the recurrence of the cerebral infarction. The α-galactosidase activity in leukocytes was significantly reduced to <0.3 nmol/mg of protein/hour, leading to a definitive diagnosis of Fabry disease. Enzyme replacement therapy was commenced concomitant to rehabilitation. It is necessary to identify Fabry disease as a cause of CRAO in young individuals, and the detection of cornea verticillata, used frequently as an ocular finding, is helpful.