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Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 corepressor gene ( BCOR ). To extend the series of phenotypes associated with pathogenic mutations in BCOR , we sequenced the BCOR gene in patients with (1) OFCD syndrome, (2) putative X-linked (‘Lenz’) microphthalmia syndrome, (3) isolated ocular defects and (4) laterality phenotypes. We present a new cohort of females with OFCD syndrome and null mutations in BCOR , supporting the hypothesis that BCOR is the sole molecular cause of this syndrome. We identify for the first time mosaic BCOR mutations in two females with OFCD syndrome and one apparently asymptomatic female. We present a female diagnosed with isolated ocular defects and identify minor features of OFCD syndrome, suggesting that OFCD syndrome may be mild and underdiagnosed. We have sequenced a cohort of males diagnosed with putative X-linked microphthalmia and found a mutation, p.P85L, in a single case, suggesting that BCOR mutations are not a major cause of X-linked microphthalmia in males. The absence of BCOR mutations in a panel of patients with non-specific laterality defects suggests that mutations in BCOR are not a major cause of isolated heart and laterality defects. Phenotypic analysis of OFCD and Lenz microphthalmia syndromes shows that in addition to the standard diagnostic criteria of congenital cataract, microphthalmia and radiculomegaly, patients should be examined for skeletal defects, particularly radioulnar synostosis, and cardiac/laterality defects.

Purpose To investigate the postoperative clinical outcomes and axial length (AL) growth of infants with congenital cataracts and microphthalmos following first-stage cataract surgery. Design Retrospective case-control study. Methods Setting: Single centre. Infants with congenital cataract that met the inclusion criteria were classified into two groups: the microphthalmos and comparison groups. All infants underwent a thorough ophthalmologic examination before surgery, and one week, 1 month, 3 months, and every 3 months after surgery. Results This study enrolled 21 infants (42 eyes) in the microphthalmos group and 29 infants (58 eyes) in the comparison group. More glaucoma-related adverse events were observed in the microphthalmos group (7 eyes, 16.7%) than in the comparison group (0 eyes, 0%) ( p  < 0.001). At each subsequent follow-up, the comparison group had a greater AL than the microphthalmos group (all p  < 0.001), and AL growth was significantly higher in the comparison group than in the microphthalmos group (all p  = 0.035). Visual acuity improvement in the microphthalmos group was similar to that of the comparison group. Conclusion Early surgical intervention improves visual function in infants with congenital cataracts and microphthalmos although with a higher incidence of glaucoma-related adverse events. After cataract removal, the AL growth of microphthalmic eyes is slower than that of normally developed eyes.

Purposes Congenital microphthalmia with orbital cyst (CMOC) is a severe ocular developmental malformation. This article aims to provide assistance for genetic counseling and further exploration of more effective treatments. Methods A combined systematic search of PubMed electronic database by using Boolean operators AND and OR was conducted, choosing the following keywords: “microphthalmos”, “microphthalmia”, “cyst”, “morbidity”, “congenital cystic eye”, “histopathological”, “molecular genetics”, “syndrome”, “treatment”, “therapy”, “surgery” and “surgical” etc. After the initial screening of these articles, repetitive literatures were excluded. Results 63 articles were selected. This article reviewed the research progress on the incidence of CMOC, its relationship with congenital microphthalmos and congenital cystic eye, histopathology and molecular genetics studies, particularly the syndromes associated with this condition and the current treatment status. Conclusion CMOC is essentially a disease caused by gene mutations, and there is no effective treatment that achieves consistent relief. Further research to clarify the genotype-phenotype and inheritance patterns of this disease may be a valuable research direction for exploring effective treatment methods and guiding clinical genetic counseling.

Background/aimsData on morphological characteristics and outcomes of extremely short eyes undergoing cataract surgery is sparse. Thus, an in-depth characterisation of eyes implanted with a high-power intraocular lens (IOL) (>30 dioptres) was performed.MethodsIn this retrospective cohort study from January 2009 to October 2023, 300 eyes of 191 patients undergoing cataract surgery with extremely short axial length requiring the implantation of a high power IOL>30D were included. Eyes were categorised into the morphologies of nanophthalmos (N), relative anterior microphthalmos (RAM) and high or low/moderate hyperopia (HH and MH). Comorbidities, intraoperative and postoperative complications, preoperative and postoperative refraction and visual outcomes were investigated.ResultsMean preoperative spherical equivalent (SE) was +6±2.85 D. The mean axial length was 20.68±0.92 mm. 19.3%, 45.3%, 22.7% and 12.7% of the studied eyes were categorised as MH, HH, N and RAM, respectively. Amblyopia (14.7%), previous strabismus surgery (7.3%), glaucoma (12.7%) and previous iridotomy (9.4%) were prevalent. Postoperative SE was −0.42±1.56 D. Preoperative Corrected Distance Visual Acuity (CDVA) and postoperative Uncorrected Distance Visual Acuity (UDVA) were not significantly different (0.34±0.39 Logarithm of the Minimum Angle of Resolution (logMAR) vs 0.47±0.38 logMAR, respectively, p=0.47), postoperative CDVA was slightly improved (0.28±0.31 logMAR, p=0.02). The narrow anterior chamber angle was significantly alleviated, posterior capsule rupture rates (3%) were within previously reported ranges.ConclusionsLens surgery is safe, improves the anterior chamber situation but is rather imprecise in extremely short eyes. Of all subtypes, nanophthalmic eyes showed compromised outcomes. Postoperative CDVA is only slightly improved to preoperative CDVA, while postoperative UDVA closely resembles preoperative CDVA. Surgery thus provides spectacle independence leading to good patient satisfaction.

Background/AimsMicrophthalmia and anophthalmia are rare conditions, which represent ocular maldevelopment; both may be associated with orbital cysts. Current literature recommends retention to stimulate orbital growth during socket rehabilitation but does not illustrate their potential to deform the periocular tissues. This study aims to illustrate the long-term outcomes when other elements, such as forniceal and lid development, are also considered when formulating bespoke treatment plans for patients.MethodsRetrospective case series of 78 patients attending a single prosthetics clinic between 1988 and 2020. Clinical and surgical notes, radiological imaging, clinical photographs and patient/doctor satisfaction questionnaires were used to report patient outcomes and natural history data.Results89 sockets of 78 patients (11 bilateral) were included; average age of presentation being 2.8 years (9 days to 29.5 years). Cysts were clinically detected (48%) or were incidental findings (52%). The mean follow-up time was 7.2 years (6 months to 28 years). Cysts in 46% of sockets underwent surgical excision while the remainder were retained. Satisfaction surveys were obtained for 75 patients, with cosmetic outcomes rated as ‘excellent’ or ‘good’ in 90% of cases by physicians and 97% of cases by patients or guardians.ConclusionThe favourable long-term outcomes in this study have resulted from bespoke plans which considered periocular tissue development, regional orbital growth and orbital volume replacement. The authors contemplate cyst excision if the prosthetic fitting or retention is impeded by the cyst as this often heralds the increased risk of long-term periocular distortion.

Introduction Microphthalmos and nanophthalmos are uncommon ocular conditions, whereby affected eyes have smaller dimensions compared to the normal population. Microphthalmos and nanophthalmos present several challenges to ophthalmologists; they have spontaneous and post-operative sequelae such as high hyperopia, angle-closure glaucoma, uveal effusion syndrome, and retinal detachment. This systematic review and meta-analysis intends to assess the prevalence of both the spontaneous complications associated with nanophthalmos and microphthalmos, as well as the post-surgical complications associated with nanophthalmos or microphthalmos. Methods and analysis Articles will be searched for, on four online databases: PubMed, EMBASE, Scopus, and Web of Science. Two independent reviewers will identify the studies according to prespecified inclusion and exclusion criteria. All studies included with participants diagnosed with microphthalmos or nanophthalmos in one or both eyes, will be included if they have (i) more than 4 cases and (ii) defined microphthalmos/nanophthalmos as an axial length of < 21 mm or a high lens/eye volume ratio. Nanophthalmos may have an additional diagnostic criterion of posterior wall thickness greater than 1.7 mm. The prevalence of the following complications will be assessed: high hyperopia (spherical equivalent >3D), angle closure glaucoma, uveal effusion syndrome, retinal detachment, and chorioretinal folds. Studies that will be excluded are those that have not adequately defined the criteria for the diagnosis of nanophthalmos or microphthalmos, those studies that have less than five cases, studies with criteria not defined above, and deemed unsuitable, and studies in languages other than English with no published translation. Relevant data will be extracted and assessed for the risk of bias in each article using a modified Joanna Briggs Institute (JBI) assessment tool. The data will then be pooled to determine the prevalence of complications among patients with microphthalmos and nanophthalmos. If the data allows, subgroup analysis will be carried out according to axial length as well as subtype of microphthalmos/nanophthalmos (simple, complex, relative anterior, and posterior). Discussion Although nanophthalmos is an uncommon condition that affects the eye, its management and complications can be sight-threatening. Thus, it is important to counsel patients and their families correctly (in the case of children) upon diagnosis and prior to any surgical intervention. This can only be done if the overall prevalence of complications is known. Registration PROSPERO CRD42021227847

Purpose To describe a case of retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter’s syndrome. Methods Fundus photography, total field electroretinogram, ultrasound, computerized visual field examination, biochemical examination and genetic testing were obtained. Results The fundus exam showed diffuse arteriolar attenuation, optic disc with regular contours, and pigment agglomerates like \"bone spicules\" in the middle periphery . Ultrasound examination revealed scleral thickening and short axial diameter in both eyes. The total field electroretinogram exam showed a subnormal result with greater impairment of the scotopic phase of the exam. Computerized visual field examination demonstrated a diffuse reduction in retinal sensitivity in the periphery. Biochemical examination showed increased urine glycosaminoglycan excretion and iduronate-2-sulphatase activity (IDS) deficiency in leukocytes, confirming the type II mucopolysaccharidosis. Molecular analysis revealed a novel missense mutation (p.A77D) in the IDS gene. Conclusion The case report is about a patient presented an attenuated form of the syndrome, with no cognitive impairment. Ophthalmologic follow-up is still an important part of multidisciplinary treatment for Hunter’s syndrome.

Objectives To compare the long-term efficacy and safety of combined phacoemulsification, anterior vitrectomy, and sclerectomy (triple procedure surgery, TS); combined phacoemulsification and anterior vitrectomy (double procedure surgery, DS); and filtering surgery (FS) in nanophthalmos with angle-closure glaucoma (NACG). Methods Retrospective cohort study. Forty patients (44 eyes) diagnosed with NACG who underwent TS, DS, and FS were included. All eyes in the TS group and seven (47%) eyes in the DS group also underwent goniosynechialysis during the surgery. The main outcome measures (intraocular pressure [IOP], best-corrected visual acuity, complications, and second surgeries) were recorded at the early- (within 1 week) and late-stage (>3 months) follow-up. Results The late-stage IOP was significantly lower in the TS (mean ± standard deviation: 13.29 ± 2.49 mm Hg) than in the DS (19.69 ± 6.97 mm Hg) and FS groups (27.57 ± 12.26 mm Hg, p  < 0.001). More visual improvements were observed in the TS and DS groups than in the FS group at late-stage follow-up ( p  = 0.04). The complication rates in the TS, DS, and FS groups were 26%, 33%, and 70%, respectively ( p  = 0.046); the second surgery rates were 0%, 33%, and 60%, respectively ( p  < 0.001). In total, one, three, and six severe complications were observed in the TS, DS, and FS groups, respectively. The mean follow-up durations in the TS, DS, and FS groups were 18.89, 20.02, and 25.75 months, respectively. Conclusions NACG management remains challenging. TS presented relatively good clinical efficacy and safety with better postoperative IOP outcomes, lower complications, and second surgery rates among the three groups in eyes with NACG.

Objectives: To evaluate the refractive outcomes, changes in intraocular pressure (IOP) and anterior chamber depth (ACD), and postoperative complications following lensectomy for angle-closure in cases of simple extreme microphthalmos. Materials and Methods: This retrospective study analyzed eyes with simple extreme microphthalmos (axial length <18 mm) that underwent lensectomy between January 2015 and July 2024. Data collection included demographic details, preoperative and postoperative best corrected visual acuity (BCVA), IOP, number of antiglaucoma medications, ACD, the diopter (D) of the implanted intraocular lens (IOL) according to the Hoffer-Q formula, postoperative refractive error, and surgical complications. Results: A total of 20 eyes from 12 patients were analyzed, with a mean patient age of 55.4[+ or -]8.7 years and an average axial length of 16.48[+ or -]0.8 mm. The average power of the implanted IOL was 53.32[+ or -]6.2 D, ranging from 44 to 64 D. The mean preoperative spherical refractive equivalent (SE) was +12.4[+ or -]2.8 D, while the mean postoperative SE was -6.67[+ or -]5.2 D (p<0.05). Postoperative spherical refractive error exceeding -1.00 D was detected in 15 eyes (75%). Postoperatively, significant decreases were observed in IOP and the need for antiglaucoma medication (p = 0.02 for both). The mean ACD increased significantly after surgery compared to the preoperative ACD (p=0.01). The difference between the intended refractive outcome and the postoperative spherical refractive error was statistically significant (p<0.05). Postoperatively, 8 eyes (40%) had a BCVA of [less than or equal to]0.7 logarithm of the minimum angle of resolution (logMAR), 10 (50%) had a BCVA between >0.7 and <1.4 logMAR and 2 eyes (10%) had a BCVA of [greater than or equal to]1.4 logMAR. Conclusion: Lensectomy in cases of extreme microphthalmos effectively reduces IOP and reliance on antiglaucoma medications and increases the ACD. However, a notable incidence of postoperative myopic refractive error remains a concern. Keywords: Axial length, lensectomy, nanophthalmos