TY - JOUR
T1 - Development of Chronic Subretinal Fluid in Kearns-Sayre Syndrome
AU - Paulus, Yannis M.
AU - Wenick, Adam S.
N1 - Publisher Copyright:
© 2016 Ophthalmic Communications Society, Inc.
PY - 2016
Y1 - 2016
N2 - Background/Purpose:To report a novel ophthalmic finding of the development of chronic subretinal fluid in a patient with Kearns-Sayre syndrome.Methods:An observational case report with funduscopic, angiographic, neurophysiologic, and optical coherence tomographic correlation.Results:An 11-year-old male with bilateral hearing loss, cerebellar dysfunction, short stature, low weight, ptosis, external ophthalmoplegia, and pigmentary retinopathy of both eyes developed chronic subretinal fluid below the central macula. This fluid has remained for more than 1.5 years. Genetic testing revealed a heteroplasmic 7,797 base pair mitochondrial deletion (m. 7638-1543del7797).Conclusions:The authors report a novel physical finding of subfoveal fluid in a patient with Kearns-Sayre syndrome. The pathophysiologic etiology of this fluid and its localization to the subfoveal retina remains unclear. Patients with pigmentary retinopathy related to mitochondrial disorders should be monitored for the development of subretinal fluid, which can contribute to vision loss.
AB - Background/Purpose:To report a novel ophthalmic finding of the development of chronic subretinal fluid in a patient with Kearns-Sayre syndrome.Methods:An observational case report with funduscopic, angiographic, neurophysiologic, and optical coherence tomographic correlation.Results:An 11-year-old male with bilateral hearing loss, cerebellar dysfunction, short stature, low weight, ptosis, external ophthalmoplegia, and pigmentary retinopathy of both eyes developed chronic subretinal fluid below the central macula. This fluid has remained for more than 1.5 years. Genetic testing revealed a heteroplasmic 7,797 base pair mitochondrial deletion (m. 7638-1543del7797).Conclusions:The authors report a novel physical finding of subfoveal fluid in a patient with Kearns-Sayre syndrome. The pathophysiologic etiology of this fluid and its localization to the subfoveal retina remains unclear. Patients with pigmentary retinopathy related to mitochondrial disorders should be monitored for the development of subretinal fluid, which can contribute to vision loss.
KW - Kearns-Sayre syndrome
KW - mitochondrial deletion syndrome
KW - pigmentary retinopathy
KW - subretinal fluid
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U2 - 10.1097/ICB.0000000000000239
DO - 10.1097/ICB.0000000000000239
M3 - Article
C2 - 26536013
AN - SCOPUS:84973402436
SN - 1935-1089
VL - 10
SP - 236
EP - 238
JO - Retinal Cases and Brief Reports
JF - Retinal Cases and Brief Reports
IS - 3
ER -