Juvenile macular dytrophy aociated with deficient activity of fatty aldehyde dehydrogenae in jögren-Laron yndrome

PURPOE: To report the ocular manifetation aociated with the jögren-Laron yndrome in a erie of patient with proven fatty aldehyde dehydrogenae deficiency. To emphaize the clinical importance of the ophthalmological feature of the jögren-Laron yndrome. To dicu the metabolic diturbance that might give rie to the ophthalmological picture. METHOD: Fifteen patient with jögren-Laron yndrome underwent a tandardized ophthalmological examination. In patient of appropriate age, and who were able to cooperate, additional invetigation were performed. REULT: All patient exhibited bilateral, glitening yellow-white crytalline depoit that were located in the innermot retinal layer and appeared during the firt 2 year of life. Repeated fundu photography in individual patient howed that the dot became more numerou a the patient got older. Photophobia, ubnormal viual acuity, myopia, and atigmatim were found in mot of the patient. Fluorecein angiography wa performed in three patient and howed a mottled hyperfluorecence of the retinal pigment epithelium, without leakage. Color viion, electroretinography, and electro-oculography could be performed in only a mall number of patient and howed no abnormalitie. Viual evoked potential were found to be abnormal in ix of eight patient. CONCLUION: In jögren-Laron yndrome, patient exhibit highly characteritic bilateral, glitening yellow-white retinal dot from the age of 1 to 2 year onward. The number of dot increae with age. The extent of the macular abnormality doe not correlate with the everity of the ichthyoi or with the everity of the neurological abnormalitie. A high percentage of patient how additional ocular ign and ymptom, notably marked photophobia