Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.
PMID 35892439 | PMCID PMC9326729 | DOI 10.3390/clinpract12040053 · Clinics and practice · 2022 · View on PubMed ↗
Unilateral retinitis pigmentosa (URP) is a rare retinal dystrophy. We describe the clinical course of two patients with (URP) unilateral retinitis pigmentosa confirmed by genetic testing, indicating ciliary dysfunction. Methods: The methods used in this study included a detailed ophthalmic examination, multimodal retinal imaging, Goldmann visual fields, full-field electroretinography (ffERG) and targeted next-generation sequencing. Results: A 32-year-old female (patient 1) and 65-year-old male (patient 2) were found to have URP. ffERG showed a non-recordable response in the affected eye and a response within normal limits in the fellow eye of patient 1, while patient 2 showed non-recordable responses in the apparently unaffected eye and a profound reduction in the photopic and scotopic responses in the affected eye. Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%. Segregation analysis was not possible for either of the mutations. Conclusion: This report expands the clinical and molecular genetic spectrum of URP.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AGBL5 | “Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%.” | 0.98 | hgnc_dict_v1 |
| phenotype | retinitis pigmentosa | “Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | retinal dystrophy | “Unilateral retinitis pigmentosa (URP) is a rare retinal dystrophy.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Arg125Trp | “Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%.” | 0.95 | hgvs_regex_v1 |
| variant | c.730-22_730-19dup | “Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%.” | 0.95 | hgvs_regex_v1 |
| variant | p.Pro429Leu | “Next-generation sequencing revealed novel compound heterozygous c.373 C>T (p.Arg125Trp) and c.730-22_730-19dup variants in AGBL5 in patient 1, and a novel hemizygous c.1286 C>T (p.Pro429Leu) in patient 2; both gene mutations were 0%.” | 0.95 | hgvs_regex_v1 |