PDF(Pubmed)
Abstract：
OBJECTIVE: To report a case of atypical Alagille syndrome with progressive chorioretinal atrophy.
METHODS: Case Report.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: Case Report.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
目的：报告1例非典型Alagille综合征（ALGS）伴进行性脉络膜视网膜萎缩。
方法：病例报告。
结果：一名42岁的日本男子出现非典型ALGS。在第一次访问时，眼底镜检查显示，周边视网膜和乳头状周围区域的前环状脉络膜视网膜萎缩，两只眼睛都保留了后极。眼底自发荧光（FAF）在周围和乳头周围区域显示低自发荧光，而是黄斑区的正常发现.经过三年的随访，色素减少的区域，可视化的大脉络膜血管延伸到中外围区域。在FAF图像上，双眼黄斑区新出现低自发荧光。还观察到后极内的血管周围低自发荧光和颗粒高自发荧光散射。BCVA恶化，同心视野收缩逐渐恶化。
结论：已知ALGS有许多眼科表现，其中大多数是稳定的，对视力的威胁最小。在目前的情况下,脉络膜视网膜萎缩在三年随访期间进展，提示ALGS中脉络膜视网膜萎缩伴视力丧失的进展可能随着时间的推移而发生.
方法：病例报告。
结果：一名42岁的日本男子出现非典型ALGS。在第一次访问时，眼底镜检查显示，周边视网膜和乳头状周围区域的前环状脉络膜视网膜萎缩，两只眼睛都保留了后极。眼底自发荧光（FAF）在周围和乳头周围区域显示低自发荧光，而是黄斑区的正常发现.经过三年的随访，色素减少的区域，可视化的大脉络膜血管延伸到中外围区域。在FAF图像上，双眼黄斑区新出现低自发荧光。还观察到后极内的血管周围低自发荧光和颗粒高自发荧光散射。BCVA恶化，同心视野收缩逐渐恶化。
结论：已知ALGS有许多眼科表现，其中大多数是稳定的，对视力的威胁最小。在目前的情况下,脉络膜视网膜萎缩在三年随访期间进展，提示ALGS中脉络膜视网膜萎缩伴视力丧失的进展可能随着时间的推移而发生.
