ALSTROM-SYNDROME - REPORT OF 22 CASES AND LITERATURE-REVIEW

Objective: The authors report 22 cases of Alstrom syndrome (AS), which is the largest series to date. Only 37 cases have been reported in th e world literature since 1959, The authors review the clinical feature s and compare these with the overlapping condition of Bardet-Biedl syn drome. Their aim is to clarify the AS phenotype and to increase awaren ess of the early features. Design: A retrospective case series. Partic ipants: All patients (22) with a diagnosis of AS admitted to the autho rs' hospital in the past 10 years were included in this review. Interv ention: This is principally a review of ocular features, but other fea tures are recorded and discussed. Main Outcome Measures: Features note d included age at onset of visual symptoms, presence of photophobia, v isual acuity, and electroretinogram findings. Nonocular features recor ded included cardiac status, weight and height, hearing, and presence of diabetes mellitus, Results: Cardiomyopathy presenting in infancy ha s only been recognized recently to be a feature of AS. Of the authors' cases, 18 of 22 had infantile cardiomyopathy. In the authors' tertiar y referral institution, there is an ascertainment bias toward younger patients and especially those with pathology that is other than ocular pathology. In addition, AS is difficult to recognize in childhood wit hout the development of infantile cardiomyopathy. Alstrom syndrome oft en is not recognized until diabetes mellitus develops in the second or third decade. Initially, a diagnosis of cone-rod dystrophy, achromato psia, Leber's congenital amaurosis, or Bardet-Biedl syndrome may be ma de. In AS, there is a severe infantile retinal dystrophy. The electror etinogram is absent or attenuated with better preserved rod than cone function. The retinal dystrophy is progressive with the patient's visu al acuity of 6/60 or less by 10 years of age and no light perception b y 20 years of age. Conclusions: A diagnosis of AS should be considered in infantile cone and rod retinal dystrophy, particularly if the weig ht is above the 90th percentile (16 of 18 cases) or if there is an inf antile cardiomyopathy (18 of 22 cases).