Abstract
2/2008
vol. 110
Case report
Alström syndrome – a case report and literature review
- Department of Ophthalmology, Clinic of Ophthalmology and Ocular Oncology, Jagiellonian University, Medical College, Kraków, Poland
Online publish date: 2008/06/25
Purpose: To report a case of Alström syndrome referred as bilateral macular degeneration.
Material and methods: A 52 years old man was diagnosed with an over 30 years history of progressive visual acuity worsening
in both eyes, with the presence of night blindness and photophobia. Since childhood the right eye has been positioned in a
divergent deviation. General history revealed: high grade obesity, dilated cardiomyopathy with mitral insufficiency, diabetes mellitus type 2, hepatic cirrhosis with elevated serum enzymes, systemic hypertension. Family history: one patient’s brother died
at the age of 2 years because of a congenital heart disease, and the second brother was diagnosed for the congenital organic
heart disease. The basic ophthalmic examination was performed with additional diagnostic methods including: kinetic visual
field examination, Amsler grid test, panel D-15 test, fundus photography, ERG, EOG and VEP.
Results: Best corrected visual acuity of both eyes was 0.1. Amsler grid and color vision tests were normal. Visual field revealed
concentric contraction in both eyes. The funduscopy showed pale optic discs, atrophic maculopathy, golden appearance of
peripheral and midperipheral fundus, coarser pigmentary changes with a „bone-spicule” configuration and arterioral narrowing.
The red free pictures demonstrated the atrophy of internal retinal layers and the infrared pictures revealed the atrophy of the
external layers of the retina in posterior pole of the fundus. The flash ERG showed reduced amplitude of photopic and scotopic
b-wave. The multifocal ERG demonstrated the normal function of the central retina. EOG revealed decreased Arden ratio in both
eyes; 1.68 in the right and 1.32 in the left. The pattern VEP revealed the P100 amplitude reduction by 80% and elongation of
latency by 120% in the right eye and normal in the left eye. The flash VEP showed normal latency and amplitude reduction by
50% in both eyes.
Conclusions: Based on the results of performed tests the diagnosis of Alström syndrome was established. This rare congenital
autosomal recessive condition is characterized by progressive cone-rod retinal dystrophy associated with obesity, sensorineural
deafness, type 2 diabetes, congenital cardiac insufficiency secondary to dilated cardiomyopathy, systemic hypertension and
kidney failure.
Material and methods: A 52 years old man was diagnosed with an over 30 years history of progressive visual acuity worsening
in both eyes, with the presence of night blindness and photophobia. Since childhood the right eye has been positioned in a
divergent deviation. General history revealed: high grade obesity, dilated cardiomyopathy with mitral insufficiency, diabetes mellitus type 2, hepatic cirrhosis with elevated serum enzymes, systemic hypertension. Family history: one patient’s brother died
at the age of 2 years because of a congenital heart disease, and the second brother was diagnosed for the congenital organic
heart disease. The basic ophthalmic examination was performed with additional diagnostic methods including: kinetic visual
field examination, Amsler grid test, panel D-15 test, fundus photography, ERG, EOG and VEP.
Results: Best corrected visual acuity of both eyes was 0.1. Amsler grid and color vision tests were normal. Visual field revealed
concentric contraction in both eyes. The funduscopy showed pale optic discs, atrophic maculopathy, golden appearance of
peripheral and midperipheral fundus, coarser pigmentary changes with a „bone-spicule” configuration and arterioral narrowing.
The red free pictures demonstrated the atrophy of internal retinal layers and the infrared pictures revealed the atrophy of the
external layers of the retina in posterior pole of the fundus. The flash ERG showed reduced amplitude of photopic and scotopic
b-wave. The multifocal ERG demonstrated the normal function of the central retina. EOG revealed decreased Arden ratio in both
eyes; 1.68 in the right and 1.32 in the left. The pattern VEP revealed the P100 amplitude reduction by 80% and elongation of
latency by 120% in the right eye and normal in the left eye. The flash VEP showed normal latency and amplitude reduction by
50% in both eyes.
Conclusions: Based on the results of performed tests the diagnosis of Alström syndrome was established. This rare congenital
autosomal recessive condition is characterized by progressive cone-rod retinal dystrophy associated with obesity, sensorineural
deafness, type 2 diabetes, congenital cardiac insufficiency secondary to dilated cardiomyopathy, systemic hypertension and
kidney failure.
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