Journal article
The uncommon occurrence of two common inherited disorders in a single patient: a mini case series
Ophthalmic genetics, Vol.39(5), pp.631-636
09/03/2018
DOI: 10.1080/13816810.2018.1498530
PMID: 30156925
Abstract
Background: Inherited eye disorders are genetically determined conditions that are present from birth and usually manifest early, although some may develop later in life. Despite their low incidence, they are a common etiology of pediatric blindness. The occurrence of more than one such disease in a patient is very rare.
Material and Methods: Case series of two unrelated patients with simultaneous Stargardt disease (STGD1) as well as Stickler's Syndrome (SS), both genetically confirmed.
Results: Patient 1: 13-year-old girl was referred for unexplained bilateral decreased vision for 6 months. She had a clinical diagnosis of SS, same as her mother. Her visual acuity was 20/200 with high myopia in both eyes. Her fundus showed foveal/perifoveal atrophy, retinal pigment epithelium (RPE) changes and beaded vitreous. Goldman visual fields (GVF) revealed enlarged blind spots with central depression. A macular dystrophy was suspected. Genetic testing revealed SS, COL11A1 gene mutation; and STGD1, ABCA4 gene mutation.
Patient 2: 67-year-old female with a history of hearing loss, cleft palate, strabismus and myopia, same as her daughter and granddaughters. Her visual acuity was 20/400 and 20/250 with high myopia in both eyes. Her fundus showed macular pigment clumping and RPE atrophy with no vitreous abnormality. GVF revealed a relative central scotoma with generalized constriction. Genetic testing revealed SS, COL11A2 gene mutation; and STGD1, ABCA4 gene mutation.
Conclusions: If a patient's signs/symptoms cannot be explained by the working/known diagnosis, additional work up should be pursued for concomitant diseases. SS and STGD1 are commonly diagnosed inherited eye disorders and can coexist in one patient on rare occasions.
Details
- Title: Subtitle
- The uncommon occurrence of two common inherited disorders in a single patient: a mini case series
- Creators
- Francisca Zuazo - University of IowaAlina V Dumitrescu - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Ophthalmic genetics, Vol.39(5), pp.631-636
- Publisher
- Taylor & Francis
- DOI
- 10.1080/13816810.2018.1498530
- PMID
- 30156925
- ISSN
- 1381-6810
- eISSN
- 1744-5094
- Language
- English
- Date published
- 09/03/2018
- Academic Unit
- Stead Family Department of Pediatrics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984180935202771
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