Objective To analyze the pathogenic gene and clinical phenotypes of a family affected with rare sector retinitis pigmentosa (sector RP). Methods A retrospective clinical study. A patient with sector RP diagnosed in Renmin Hospital of Wuhan University and his parents were included in the study. Detailed medical history was collected; best corrected visual acuity (BCVA), fundus color photography, autofluorescence (AF), visual field, optical coherence tomography (OCT), electroretinogram, fluorescein fundus angiography (FFA), indocyanine green angiography (ICGA) examination were performed. The peripheral venous blood of the patient and his parents were collected, and DNA was extracted. A whole exon sequencing was used for the proband. The mutations were verified by targeted Sanger sequencing and quantitative polymerase chain reaction. Bioinformatics analysis and cosegregation analysis were performed. ResultsThe proband, a 17-year-old male, had presented with gradually decreased vision in the past 2 years with BCVA of 0.4 in both eyes. Retinal vessels attenuation and macular dystrophy without obvious pigmentation on the fundus were observed. AF showed, in bilateral eyes, a symmetrical hypo-autofluorescent region only in the inferonasal quadrant and “petal-like” hyper-AF macula. The visual field examination showed defects in the superotemporal quadrant corresponding to the affected retina. OCT showed loss of the photoreceptor layer except for the foveal region. Electroretinogram examination presented reduced scotopic wave peaks and extinct photopic response. FFA and ICGA showed the atrophy retinal pigment epithelium around the optic disk and in the inferior retina. The clinical phenotypes of the parents were normal. The whole exon sequencing identified one mutation in SPATA7 gene, c.1112T>C (p.Ile371Thr) in exon10 and a copy number variation in trans. The missense mutation resulted in the change of isoleucine to threonine at amino acid 371 in the encoded SPATA7 protein, and the mother carried this heterozygous mutation c.1112T>C. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG) criteria and guidelines for classification of genetic variants, the missense mutation was classified as the uncertain significance. The CNV, originating from his father, contributed to the loss of exon10 and was confirmed as the likely pathogenic variant. ConclusionsThe macula can be involved in sector RP, leading to the macular dystrophy. The missense variant in SPATA7 gene, c.1112T>C (p.Ile371Thr), might be a pathogenic mutation site in this pedigree.
Objective To investigate the clinical phenotypes and genetic characteristics of Jalili syndrome. Methods A retrospective clinical study. Four patients diagnosed with Jalili syndrome by genetic testing at Eye Center of Renmin Hospital of Wuhan University from July 2023 to July 2025 were included. The patients were from 4 unrelated families. Detailed medical and family histories were obtained. All patients underwent comprehensive ophthalmic examinations, including best-corrected visual acuity, color fundus photography, ultra-widefield fundus autofluorescence imaging, and optical coherence tomography, as well as oral photography. Peripheral venous blood samples were collected from the patients and their family members for genomic DNA extraction. Whole-exome sequencing and bioinformatic analyses were performed. All identified variants were classified according to the guidelines of the American College of Medical Genetics and Genomics (ACMG). ResultsAmong the four patients, there was one male and three females, aged 5, 31 (male), 35, and 40 years. All patients presented with childhood-onset photophobia, nystagmus, and decreased visual acuity, accompanied by dental abnormalities predominantly characterized by amelogenesis imperfecta. The 5-year-old patient exhibited a bull’s-eye maculopathy and mild enamel defects. The 31- and 35-year-old patients showed progressive outer retinal structural damage and visual function decline, along with enamel hypoplasia, discoloration, or dental caries. The 40-year-old patient, from a consanguineous family, developed severe visual impairment in early childhood, accompanied by residual roots, retained primary teeth, and retinal vascular occlusion. Genetic analysis identified six CNNM4 variants highly correlated with the phenotype. Patient 1 carried a nonsense variant c.1555C>T (p.Arg519Ter) (M1) and a missense variant c.1423G>A (p.Val475Met) (M6); patient 2 carried a frameshift variant c.981dup (p.Leu328SerfsTer25) (M2) and a missense variant c.1219C>G (p.Arg407Gly) (M4); patient 3 carried two missense variants c.755T>G (p.Leu252Arg) (M3) and c.452G>T (p.Cys151Phe) (M5); patient 4 carried a homozygous frameshift variant c.981dup (p.Leu328SerfsTer25) (M2). Variants M2, M3, M4, and M5 were novel. According to ACMG guidelines, M1 and M2 were classified as pathogenic, M5 and M6 as likely pathogenic, and M3 and M4 as variants of uncertain significance. ConclusionsJalili syndrome is an early-onset, progressive CNNM4-related oculo-dental syndrome. M2, M3, M4, and M5 are new mutations reported for the first time in this study. The variants M2, M4, and M5 (missense) and M3 (frameshift) are newly identified variants.