Stargardt misdiagnosis: How ocular genetics helps
- Resource Type
- Authors
- Jenina E. Capasso; Nicholas Bello; Thales Antonio Cabral de Guimarães; Alex V. Levin; Manuel Benjamin B. Ibanez
- Source
- American journal of medical genetics. Part AREFERENCES. 185(3)
- Subject
- 0301 basic medicine
Adult
Male
genetic structures
Adolescent
ABCA4
030105 genetics & heredity
Subspecialty
Diagnosis, Differential
03 medical and health sciences
Macular Degeneration
Standard definition
Genetics
Medicine
Humans
Stargardt Disease
Medical diagnosis
Child
Genetics (clinical)
Genetic testing
Retrospective Studies
Retrospective review
biology
medicine.diagnostic_test
business.industry
Middle Aged
medicine.disease
Prognosis
eye diseases
Stargardt disease
030104 developmental biology
Child, Preschool
Mutation
biology.protein
Maculopathy
ATP-Binding Cassette Transporters
Female
business
Follow-Up Studies
- Language
- ISSN
- 1552-4833
Ocular Genetics at Wills Eye Hospital sees a wide range of rare disorders for accurate diagnosis. To demonstrate how focused consultation and genetic testing results in precise diagnoses, we investigated false diagnosis rates for patients referred with a diagnosis of Stargardt disease. This is a retrospective review of patients over a 3 year period referred to our Ocular Genetics clinic for possible Stargardt disease, or already holding a diagnosis of Stargardt disease. Results of diagnostic and genetic testing were compared to standard definition of Stargardt. Of 40 patients, 14 (35%) had been misdiagnosed. Four had non-Stargardt phenotype of which three had ABCA4 pathogenic variants with phenotypes inconsistent with Stargardt disease. Two of those with pathogenic ABCA4 variants were related. Nine had pathogenic variants in other different genes with overlapping features of Stargardt disease. One had Thioridazine maculopathy. Our study highlights the essential role of the subspecialty field of ocular genetics in obtaining accurate diagnoses for the delivery of correct counseling and interventional trial eligibility assessment.