Elsevier

Ophthalmology

Volume 105, Issue 7, 1 July 1998, Pages 1274-1280
Ophthalmology

Alström syndrome: Report of 22 cases and literature review

https://doi.org/10.1016/S0161-6420(98)97033-6Get rights and content

Abstract

Objective

The authors report 22 cases of Alström syndrome (AS), which is the largest series to date. Only 37 cases have been reported in the world literature since 1959. The authors review the clinical features and compare these with the overlapping condition of Bardet-Biedl syndrome. Their aim is to clarify the AS phenotype and to increase awareness of the early features.

Design

A retrospective case series.

Participants

All patients (22) with a diagnosis of AS admitted to the authors’ hospital in the past 10 years were included in this review.

Intervention

This is principally a review of ocular features, but other features are recorded and discussed.

Main outcome measures

Features noted included age at onset of visual symptoms, presence of photophobia, visual acuity, and electroretinogram findings. Nonocular features recorded included cardiac status, weight and height, hearing, and presence of diabetes mellitus.

Results

Cardiomyopathy presenting in infancy has only been recognized recently to be a feature of AS. Of the authors’ cases, 18 of 22 had infantile cardiomyopathy. In the authors’ tertiary 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 without the development of infantile cardiomyopathy.

Alström syndrome often is not recognized until diabetes mellitus develops in the second or third decade. Initially, a diagnosis of cone-rod dystrophy, achromatopsia, Leber’s congenital amaurosis, or Bardet-Biedl syndrome may be made. In AS, there is a severe infantile retinal dystrophy. The electroretinogram is absent or attenuated with better preserved rod than cone function. The retinal dystrophy is progressive with the patient’s visual acuity of 6/60 or less by 10 years of age and no light perception by 20 years of age.

Conclusions

A diagnosis of AS should be considered in infantile cone and rod retinal dystrophy, particularly if the weight is above the 90th percentile (16 of 18 cases) or if there is an infantile cardiomyopathy (18 of 22 cases).

Section snippets

Patients and methods

The 22 patients presented have been examined over the past 10 years at The Great Ormond Street Hospital for Children. This report has been prepared using a retrospective review of case notes, and patients have been recalled for follow-up examination, or recent data have been obtained from their current physicians. Electrophysiologic recordings were obtained without sedation. Silver-silver chloride electroencephalographic electrodes were attached to the lower eyelid, within 1 cm of the eyelid

Results

We report 22 cases of AS from 14 families (3 with consanguinity). There are 11 females and 11 males. Two patients (cases 10 and 11) have first-cousin parents and four normal siblings. One patient (case 18) has one unaffected sister, four further siblings died, and the parents are first cousins. One patient (case 22) also has first-cousin parents. In 1989, we had reported 7 of these 22 patients as having atypical Leber’s congenital amaurosis with cardiomyopathy before the diagnosis of AS was

Discussion

We believe that AS is a distinct condition from BBS (Table 3), but there may be difficulties in distinguishing the phenotypes, particularly in patients without polydactyly and in those who have a cone-rod retinal dystrophy.

Acknowledgements

The authors thank the doctors involved in the care of these patients who have referred their cases and provided us with reports: Mr. C. M. Bailey, Dr. M. Crouchman, Professor J. E. Deanfield, Dr. I. Ellis, Professor A. R. Fielder, Professor A. Garner, Mr. A. N. Johns, Dr. D. L. Kennaird, Professor B. Lake, Professor S. Lambert, Mr. A. T. Moore, Dr. P. G. Rees, Dr. G. S. Snelling, Dr. T. Sirimanna, Dr. R. Stanhope, Mr. A. D. McG Steele, Professor R. Tattersall, Dr. M. H. Thompson, Dr. J. Wilson,

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