Department of Ophthalmology, Aichi Medical University, Nagakuteshi, Aichi, Japan.
Retin Cases Brief Rep. 2024 Mar 1;18(2):247-250. doi: 10.1097/ICB.0000000000001368.
To report a case of atypical Alagille syndrome with progressive chorioretinal atrophy.
Case Report.
A 42-year-old Japanese man presented with atypical Alagille syndrome. At the first visit, funduscopy revealed anterior circumferential chorioretinal atrophy in the peripheral retina and peripapillary region with posterior pole sparing in both eyes. Fundus autofluorescence showed hypoautofluorescence in the peripheral and peripapillary regions, but normal findings in the macular region. After follow-up for 3 years, hypopigmented area with well visualized large choroidal vessels extended to mid-peripheral region. On Fundus autofluorescence images, hypoautofluorescence newly appeared in macular region in both eyes. Perivascular hypoautofluorescence and granular hyperautofluorescence scattering within the posterior pole were also observed. BCVA deteriorated and concentric visual field contraction worsened progressively.
Alagille syndrome is known to have many ophthalmic manifestations, most of which are stable with minimal threat to vision. In the present case, chorioretinal atrophy progressed during 3-year follow-up, suggesting that progression of chorioretinal atrophy with vision loss may occur over time in Alagille syndrome.
报告一例进行性脉络膜视网膜萎缩的非典型 Alagille 综合征病例。
病例报告。
一名 42 岁的日本男性患有非典型 Alagille 综合征。初次就诊时，眼底检查发现双眼周边视网膜和视盘周围呈前环形脉络膜视网膜萎缩，后极部正常。眼底自发荧光检查显示周边和视盘周围呈低自发荧光，而黄斑区正常。随访 3 年后，色素减退区伴可见大脉络膜血管延伸至中周边区域。在眼底自发荧光图像上，双眼黄斑区出现新的低自发荧光。还观察到后极部血管周围低自发荧光和颗粒状高自发荧光散射。BCVA 恶化，中心视野收缩进行性加重。
Alagille 综合征已知有许多眼部表现，大多数表现稳定，对视力的威胁极小。在本病例中，脉络膜视网膜萎缩在 3 年的随访中进行性进展，表明 Alagille 综合征脉络膜视网膜萎缩伴视力丧失可能会随时间逐渐进展。
