SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa
| Autor: | Michaela L. Gruzensky, Samuel G. Jacobson, Rodrigo Matsui, Tomas S. Aleman, Alexander Sumaroka, David B. McGuigan, Sharon B. Schwartz, Artur V. Cideciyan, Robert K. Koenekoop |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Retinal degeneration Male medicine.medical_specialty genetic structures Biology medicine.disease_cause Retina Article Diagnosis Differential 03 medical and health sciences 0302 clinical medicine Optical coherence tomography Ophthalmology Retinitis pigmentosa medicine Electroretinography Humans Child Genetics (clinical) Mutation medicine.diagnostic_test Homozygote Optical Imaging medicine.disease Phenotype eye diseases 3. Good health DNA-Binding Proteins 030104 developmental biology medicine.anatomical_structure Pediatrics Perinatology and Child Health 030221 ophthalmology & optometry Visual Field Tests sense organs Erg Cone-Rod Dystrophies Retinitis Pigmentosa Tomography Optical Coherence Follow-Up Studies |
| Zdroj: | Ophthalmic genetics. 37(3) |
| ISSN: | 1744-5094 |
| Popis: | SPATA7 mutations have been associated with different autosomal recessive retinal degeneration phenotypes. Long-term follow-up has not been described in detail.A Hispanic patient with SPATA7 mutations was evaluated serially over a 12-year period with kinetic and static chromatic perimetry, optical coherence tomography (OCT), and fundus autofluorescence (AF) imaging. Electroretinography (ERG) was performed at the initial visit.The patient was homozygous for a mutation in SPATA7 (p.V458fs). At age 9, the ERG showed an abnormally reduced but preserved rod b-wave and no detectable cone signals. There were two islands of vision: a midperipheral island with greater cone than rod dysfunction and a central island with normal cone but no rod function. Serial measures of rod and cone vision and co-localized retinal structure showed that the midperipheral island slowly became undetectable. By age 21, only the central island and its cone function remained, but it had become more abnormal in structure and function.The disease resulting from SPATA7 mutations in this patient initially presented as a cone-rod dystrophy (CRD), but changed over time into a phenotype more reminiscent of late-stage retinitis pigmentosa (RP). The differential diagnosis for both CRD and RP should include this rare molecular cause of autosomal retinal degeneration. An evolving phenotype complicates not only clinical diagnosis and patient counselling but also future strategies aimed at treating specific retinal regions. |
| Databáze: | OpenAIRE |
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