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Temporal macular thinning associated with X-linked Alport syndrome
Faisal Ahmed1, Kandon K Kamae, Denise J Jones
1Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah, University of Utah Health Sciences Center Salt Lake City, UT 84132, USA.
JAMA Ophthalmology
|April 11, 2013
Summary
Temporal macular thinning on optical coherence tomography (OCT) is key for diagnosing X-linked Alport syndrome (XLAS). Certain COL4A5 gene mutations, like L1649R, are linked to milder XLAS with less severe thinning and later kidney issues.
Area of Science:
- Ophthalmology
- Genetics
- Nephrology
Background:
- X-linked Alport syndrome (XLAS) is a genetic disorder affecting collagen IV, primarily impacting kidneys and eyes.
- Optical coherence tomography (OCT) reveals temporal macular thinning, a significant indicator in XLAS diagnosis and prognosis.
Purpose of the Study:
- To investigate OCT findings and the severity of temporal macular thinning in XLAS patients.
- To correlate ocular findings, including macular thinning, with specific COL4A5 gene mutation genotypes.
Main Methods:
- Genotyping for COL4A5 mutations was performed on 32 XLAS patients from 24 families.
- Spectral domain OCT and fundus photography were used for retinal imaging.
- Temporal macular thinning was quantified by comparing temporal to nasal retinal thickness ratios against a normative database.
Main Results:
- All patients carried a COL4A5 gene mutation, with 11 distinct mutations identified.
- Severe pathological temporal macular thinning was observed in 70% of eyes (44 of 63).
- The L1649R mutation was associated with reduced severe temporal macular thinning and delayed renal failure onset.
Conclusions:
- Temporal macular thinning is a prominent diagnostic and prognostic marker in XLAS, underscoring the importance of OCT.
- The L1649R COL4A5 mutation is linked to a milder XLAS phenotype, characterized by less severe macular thinning and late-onset renal disease.
- The underlying pathology of retinal abnormalities in XLAS requires further investigation.
