Nine foveal hypoplasia patients in a family / 中华眼底病杂志

Objective:To observe the clinical features of nine foveal hypoplasia (FVH) patients in a family.Methods:A retrospective clinical study. In August 2018, nine patients with FVH from a family diagnosed in Qilu Hospital of Shandong University (Qingdao) were included in this study. Detailed medical history of the proband was collected. Best corrected visual acuity (BCVA), slit-lamp, cycloplegic refraction, fundus color photography, optical coherence tomography (OCT) and OCT angiography (OCTA) were performed on the proband. The peripheral venous blood of V7 (family member), the proband and the proband's parents were collected for DNA extraction, and gene detection was performed.Results:The proband, a four-year-old girl, had poor vision with BCVA of 0.4 in both eyes. OCT showed absence of foveal pit, absence of outer segment lengthening, absence of outer nuclear layer widening and incursion of inner retinal layers. The proband's mother was 32 years old, and macular foveal reflection was not observed in her eyes. OCT and OCTA examination showed no foveal pit and foveal avascular zone in both eyes. Both eyes of the proband and her mother were diagnosed with Thomas grade 4 FVH. The other seven patients also had no foveal pit, and could be categorized into Thomas grade 3 or 4. No significant pathogenic genes and mutation sites were detected in the proband through whole genome sequencing, and no copy number variation or chromosomal abnormality associated with the phenotype of the proband was detected. After seven months of amblyopia treatment, the proband's BCVA had improved to 0.5 in the right eye and 0.6 in the left eye, while the BCVA did not change after 2 years of follow-up.Conclusion:Nine FVH patients in this family had no foveal pit with similar OCT images, and their visual acuity was affected from lightly to severely. Early amblyopia training is helpful to improve the visual acuity of child patients.

Clinical Features and Molecular Characteristics of Korean Patients with Congenital Aniridia

PURPOSE: To introduce clinical features and molecular characteristics of Korean patients with congenital aniridia. METHODS: Patients with iris hypoplasia were diagnosed clinically as congenital aniridia and were included in the study. Best corrected visual acuity (BCVA) and associated ocular abnormalities (including severity of iris hypoplasia, nystagmus, keratopathy, and foveal hypoplasia), and findings in optical coherence tomography were analyzed. PAX6 analysis,multiplex ligation-dependent probe amplification (MLPA), genomic molecular karyotyping, and candidate gene sequencing were performed to detect genetic abnormalities. RESULTS: 28 patients from 18 families were included in the study. BCVA varied from hand motion to 20/25. No manifest nystagmus was found in 3 patients, but the rest of the patients had pendular horizontal nystagmus. Keratopathy was found in 23 patients, cataracts in 12 patients, and glaucoma in 4 patients. All patients had foveal hypoplasia, including one case with a subtle phenotype. The PAX6 mutation was detected in 13 families out of 18;2 (p.Trp162Leufs*38,p.Gly409Arg) were novel,3 families had the miss ensemutation, and 3 families had alargedeletion in the PAX6 gene. CONCLUSIONS: This study adds 2 novel PAX6 mutations related to congenital aniridia to those previously reported. Congenital aniridia is a serious, sight-threatening ocular malformation, but central vision and the degree of iris hypoplasia were highly variable. The PAX6 mutation was detected in 72% of the patients in this study, and there were no specific clinical features differentiating aniridia with and without PAX6 mutations.

Spectral domain optical coherence tomography and microperimetry in foveal hypoplasia.

A case of foveal hypoplasia associated with ocular albinism with anatomic and functional changes by various techniques using spectral domain optical coherence tomography (SD-OCT), microperimeter and confocal scanning laser ophthalmoscope is described. This case highlights the importance of microperimeter in detecting the functional abnormalities of vision and SD-OCT in identifying the retinal laminar abnormalities in foveal hypoplasia.

Clinical Manifestations of Foveal Hypoplasia

PURPOSE: To estimate the baseline demographic/ocular characteristics and associated findings of patients with foveal hypoplasia. METHODS: The medical records of 42 patients (84 eyes) who were clinically diagnosed with foveal hypoplasia were retrospectively reviewed. RESULTS: There were 28 males and 14 females with mode age at diagnosis of 1 (range, 0-60 years) year and a mean follow-up period of 9.7 +/- 5.4 years. At the first office visit, the most common complaints were ocular oscillation and face turn. There were 75 eyes (91.5%) with best corrected visual acuity worse than 0.3 at the first visit, but that number decreased to 55 eyes (67.1%) at the last follow-up (age range, 7-60 years). The absolute spherical equivalent of refractive errors was 2.89 +/- 2.96 diopters (D), and 71 eyes had astigmatism with a mean astigmatism of 2.1 +/- 1.1 D. Forty-two patients had associated diseases: 15 (35.7%) with aniridia, 16 (38.1%) with ocular albinism and 11 (26.2%) with oculocutaneous albinism. In addition, strabismus was found in 24 patients (57.1%). CONCLUSIONS: Diseases associated with foveal hypoplasia include aniridia, ocular albinism and oculocutaneous albinism. Since foveal hypoplasia is often associated with high refractive errors and poor vision, an early prescription of eyeglasses is mandatory for management of refractive amblyopia to ensure the development of the best corrected visual acuity.

Optical Coherence Tomography Findings in Three Cases of Albinism

PURPOSE: To report optical coherence tomography (OCT) findings in albinism. METHODS: Full ocular examinations, including OCT, were performed in one patient with ocular albinism and two patients with oculocutaneous albinism. RESULTS: OCT scans were unable to detect the foveal depression in these patients. A widespread thickening of the retina occurred throughout the entire fovea, which showed no difference from the surrounding macula. OCT scans also demonstrated probable scleral layer below the retinal pigment epithelial (RPE) layer. CONCLUSIONS: OCT scans of albinism patients confirmed foveal hypoplasia and increased transmission of incident light in the RPE layer.

Two Cases of Isolated Foveal Hypoplasia

Foveal hypoplasia has been described in association with aniridia, albinism, microphthalmia and achromatopsia. Isolated foveal hypoplasia unassociated with other ocular abnormalities has been rarely reported and is regarded as a rare condition. Authors experienced two cases of isolated foveal hypoplasia in the same family. A 30-year-old woman and her 3-year-old daughter presented with a complaint of poor visual acuity and nystagmus. Ophthalmoscopic examination of their both eyes revealed loss of foveal reflex, absence of macular luteal pigment, and abnormal distribution of retinal vessels at the posterior pole. No abnormal ocular findings other than lens opacity, high myopia, and large optic cup were found.