Title:Clinical Observation and Genotype-Phenotype Analysis of ABCA4-
Related Hereditary Retinal Degeneration before Gene Therapy
Volume: 22
Issue: 4
关键词:
ABCA4, stargardt病，锥细胞营养不良，视网膜色素变性（锥型），锥杆营养不良，视网膜变性。
摘要:
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.
