A Retinal Disease With Systemic Associations

Authors: Ersalan A. Rahman, MD; Jane Edmond, MDSeries Editor: David K. Coats, MD

Disclosures

June 10, 2004

Clinical Presentation

A 17-year-old male presented to our office with a history of difficulty seeing, particularly in the dark, for several years. His vision had gradually worsened since onset. He had been prescribed glasses by his optometrist, but they helped his vision only slightly.

His medical history was remarkable for obesity and type 2 diabetes mellitus, for which he took the oral hypoglycemic glimepiride. He had a history of postaxial polydactyly with a sixth digit on both hands and both feet. These extra digits were removed early in childhood. No one in his family suffered from any significant ophthalmic or other medical problems. The patient was in special education in the 11th grade.

General physical examination revealed a moderately obese patient in no apparent distress. He had short fingers and residual scars at the ulnar aspect of his hands where his extra fingers had been (Figure 1).

Hands of the patient demonstrating brachydactyly and scars at the site of the extra digits.

Ophthalmic examination revealed a spectacle corrected visual acuity of 20/200 in the right eye and 20/300 in the left eye. With the lights dimmed, the patient was unable to localize a large toy held a few feet away. His current spectacles were -6.00 + 6.00 x 081 right eye, and -4.75 + 4.75 x 086 left eye. Pupils reacted moderately to light and there was no relative afferent papillary defect. Motility testing revealed an intermittent exotropia of up to 30 prism diopters. Confrontation visual fields and anterior segment exam were normal. Fundus examination showed a diffuse pigmentary disturbance and a cellophane maculopathy (Figures 2 and 3).

Fundus photographs demonstrating relatively normal disc and vessels, cellophane maculopathy, and a diffuse speckled pigmentary disturbance.

Fundus photographs demonstrating relatively normal disc and vessels, cellophane maculopathy, and a diffuse speckled pigmentary disturbance.

Based on the history of a probable rod-cone dystrophy associated with obesity, postaxial polydactyly, brachydactyly, mild mental retardation, and diabetes mellitus, what is the patient's most likely diagnosis?

  1. Usher syndrome

  2. Laurence-Moon syndrome

  3. Bardet-Biedl syndrome

  4. Pseudoxanthoma elasticum

View the correct answer.

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