The nanophthalmos phenotype, characterized in detail in the younger individual, encompassed bilateral corneal steepening, retinal folds, buried optic head drusen, and restricted visual fields, but no signs of retinal dystrophy. A known pathogenic founder CTDP1 variant c.863+389C>T in a homozygous state was identified in the other family member confirming the suspected diagnosis of congenital cataracts, facial dysmorphism, and demyelinating neuropathy syndrome. Conclusions Herein, we report the first occurrence of nanophthalmos in the Roma population. We have identified pseudodominant inheritance for this phenotype caused by a novel variant in PRSS56, representing a possible founder effect.  https://www.selleckchem.com/products/mitomycin-c.html  Despite advances in genetic technologies such as exome sequencing, careful phenotype evaluation in patients from an isolated population, along with an awareness of population-specific founder effects, is necessary to ensure that accurate molecular diagnoses are made.Background Rhegmatogenous retinal detachment associated with choroidal detachment (RRDCD) is rare and the prognosis is poor. This retrospective study evaluated the effect of preoperative steroid on the clinical outcome of patients with RRDCD receiving 23-gauge pars plana vitrectomy (PPV). Methods Sixty-six patients (67 eyes) with diagnosed RRDCD underwent 23-gauge PPV. The patients assigned to receive systemic or subtenon injection of preoperative steroids were considered Group A (35 eyes) and did not receive are considered Control Group B (32 eyes). Most patients in Group A received subtenon injection of glucocorticoids. The cyclodialysis angle was measured with ultrasound biomicroscopy. Preoperative, intraoperative, and postoperative data were compared. Results The rates of retinal reattachment in Group A after the first and second operations were 68.8% (24/35 eyes) and 91.43% (32/35 eyes), respectively, which were not significantly different from that of Group B (78.1%, 25/32 eyes; 96.6%, 31/32 eyes). The logMAR (logarithm of the minimum angle of resolution) visual acuity in Group A (1.63 ± 0.75) was similar to that of Group B (1.34 ± 0.74). Postoperative intraocular pressure and ocular hypertension in Group A (17.94 ± 9.82 mmHg and 37.1%, respectively; 13/35 eyes) were comparable to that of Group B (20.93 ± 10.21 mmHg and 56.3%; 18/32 eyes). Logistic regression analysis showed that postoperative reattachment was negatively associated with preoperative cyclodialysis angle as measured with ultrasound biomicroscopy (P=0.048) but was not significantly associated with preoperative steroid use (P=0.907). Conclusions Preoperative steroid use does not improve retinal reattachment and visual acuity in patients with RRDCD after 23-gauge PPV. Preoperative measurement of the cyclodialysis angle with ultrasound biomicroscopy may be useful for predicting clinical outcomes.Purpose Bilateral choroidal ganglioneuroma is extremely rare, and no cases have been described in the literature. Multimodal images are crucial for its diagnosis. Here, we evaluated multimodal images in the early stage of choroidal ganglioneuroma. Methods A 6-year-old boy was recruited who had experienced gradually progressive vision loss and rapidly progressive myopia in both eyes over the past 2 years. His eyes were comprehensively evaluated via slit-lamp microscopy, ultrasound biomicroscopy, swept-source optical coherence tomography (SS-OCT), fundoscopy, fundus fluorescein angiography, indocyanine green angiography (ICGA), ultrasound B scanning, and magnetic resonance imaging. Electrophysiological examinations included electrooculography and electroretinography. Choroid biopsy and pathological examination were performed. Results Over the past 2 years, the patient's best-corrected visual acuity had gradually decreased to hand motions at 10 cm in the right eye and 20/63 in the left, with axial length growth culature on ICGA. The current report provides multimodal imaging of choroidal ganglioneuroma for the first time and can be valuable for early diagnosis.Myopia is a common cause of visual impairment worldwide. Choroidal thickness (ChT) reflects the characteristic changes in myopic children and may be used as an important index of myopia. The purpose of this study was to investigate ChT and its distribution across the posterior pole in young myopic Chinese patients using enhanced depth imaging optical coherence tomography (EDI-OCT) and to explore the factors associated with it. A total of 402 myopic Chinese patients aged 6-16 years who underwent complete ophthalmic examinations, including those for axial length, cycloplegic refraction, and intraocular pressure, were examined with EDI-OCT. The mean subfoveal ChT was 303.08 ± 76.87 μm and displayed large variations at different positions (p less then 0.05). The thickest sector was located 3 mm temporally from the fovea. Multivariate regression analysis showed a significant negative correlation of the subfoveal ChT values with axial length (AL), whereas the ChT was moderately influenced by the patient's sex. AL accounted for 7.9% of the ChT variance, whereas sex explained 9.6% of the ChT variance. In the population aged 11 years and older, AL accounted for 13.1% of the ChT variance. However, in those younger than 11 years, age was the only significant explanatory factor accounting for 5.2% of the ChT variance. In conclusion, we found a significant decrease in ChT with age in myopic children younger than 11 years. The negative association between age and ChT in children aged 11 years and older may be offset by the choroidal thickening mediated by pubertal growth spurts. The positive correlation between ChT and spherical equivalent in myopic adolescents aged 11 years and older suggests that the protective effect of lens thinning against rapid axial elongation disappears with age. Axial elongation becomes the dominant determinant of ChT in this age group.Purpose To compare the patterns of relative peripheral refractions of myopic children who were currently on atropine treatment for myopia control and myopic children who did not use atropine. Methods Chinese children (n = 209) aged 7 to 12 years participated in the study, 106 used atropine and 103 did not. Participants were also classified into three groups emmetropes (SE +0.50 to -0.50 D), low myopes (SE -0.50 to -3.00 D), and moderate myopes (SE -3.00 to -6.00 D). The central and peripheral refractions along the horizontal meridians (for both nasal and temporal fields) were measured in 10-degree steps to 30 degrees. Results There were no statistically significant differences in spherical equivalent and astigmatism of the three refractive groups in either the nasal or temporal retina. The atropine group showed a significant relative myopia in the temporal 30° field in spherical equivalent compared to the emmetropic group (t 49 = 3.36, P=0.02). In eyes with low myopia, the atropine group had significant relative myopia in the nasal 30° and temporal 30° fields (t 118 = 2.