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Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene
Xuan Xiao1, Lin Ye2, Changzheng Chen1
1Eye Center, Renmin Hospital of Wuhan University, Wuhan University, Hubei, Wuhan 430060, China.
Insights
Genetic variants in the ABCA4 gene cause hereditary retinal degeneration (HRD), leading to diverse clinical presentations. Understanding these ABCA4 gene mutations is crucial for diagnosing and managing HRD phenotypes.
Area of Science:
- Ophthalmology
- Genetics
- Medical Research
Background:
- Hereditary retinal degeneration (HRD) is an irreversible blinding eye condition.
- ABCA4 gene variants are the most common cause of HRD.
- HRD exhibits significant clinical and genetic heterogeneity.
Purpose of the Study:
- To analyze genotype-phenotype correlations in patients with ABCA4-associated HRD.
- To investigate the clinical spectrum of HRD caused by ABCA4 variants.
Main Methods:
- Retrospective study of five HRD patients.
- Genetic testing for ABCA4 variants.
- Comprehensive ophthalmological examinations including visual acuity, fundus photography, OCT, and electrophysiology.
Main Results:
- Disease-causing ABCA4 variants identified in all patients, including seven novel variants.
- Diverse phenotypes observed: Stargardt disease, retinitis pigmentosa, and cone dystrophy.
- Significant variation in visual acuity, visual field impairment, and electrophysiological responses.
Conclusions:
- The ABCA4 gene can cause varied clinical phenotypes and degrees of visual impairment.
- Accurate diagnosis and differentiation of HRD pathologies are essential for clinical management.
Background:
Hereditary retinal degeneration (HRD) is an irreversible eye disease that results in blindness in severe cases. It is most commonly caused by variants in the ABCA4 gene. HRD presents a high degree of clinical and genetic heterogeneity. We determined genotypic and phenotypic correlations, in the natural course of clinical observation, of unrelated progenitors of HRD associated with ABCA4.
Objective:
To analyze the relationship between the phenotypes and genotypes of ABCA4 variants.
Methods:
A retrospective clinical study of five cases from the ophthalmology department of the People's Hospital of Wuhan University from January 2019 to October 2020 was conducted. We tested for ABCA4 variants in the probands. We performed eye tests, including the best-corrected visual acuity, super-wide fundus photography and spontaneous fluorescence photography, optical coherence tomography, and electrophysiological examination.
Results:
Disease-causing variants were identified in the ABCA4 genes of all patients. Among these, seven ABCA4 variants were novel. All patients were sporadic cases; only one patient had parents who were relatives, and the other four patients were offspring of unrelated parents. Two patients presented with Stargardt disease, mainly with macular lesions, two presented with retinitis pigmentosa (cone-rod type), and one presented with cone dystrophy. The visual acuity and visual field of the five patients showed varying degrees of deterioration and impairment.
Conclusion:
The same ABCA4 mutation can lead to different clinical phenotypes, and there is variation in the degree of damage to vision, visual field, and electrophysiology among different clinical phenotypes. Clinicians must differentiate between and diagnose pathologies resulting from this mutation.
