UNASSIGNED: We present a case of a child with Floating-Harbor Syndrome (FHS) with bilateral chorioretinal coloboma (CC). To the best of our knowledge, this is the first case report of this association. Floating- Harbor syndrome is an extremely rare autosomal dominant genetic disorder with approximately 100 cases reported. It is characterized by a series of atypical features that include short stature with delayed bone age, low birth weight, skeletal anomalies, delayed speech development, and dysmorphic facial characteristics that typically portray a triangular face, deep-set eyes, long eyelashes, and prominent nose.
UNASSIGNED: Our patient was examined by a pediatric ophthalmologist for the time at age of 7. Visual acuity, optical coherence tomography (OCT) and Optos imaging were collected on every visit. The patient had whole genome sequencing ordered by a pediatric geneticist to confirm Floating-Harbor syndrome.
UNASSIGNED: We present the patient\'s OCT and Optos images that illustrate the location of the patient\'s inferior chorioretinal coloboma in both eyes. The whole genome sequencing report collected revealed a heterozygous de novo pathogenic variant in the SRCAP gene, consistent with a Floating-Harbor syndrome diagnosis in the literature.
UNASSIGNED: Both genetic and systemic findings are consistent with the diagnosis of Floating-Harbor syndrome in our patient. Rubenstein-Taybi and Floating-Harbor syndrome share a similarity in molecular and physical manifestations, but because of the prevalence in Rubenstein-Taybi diagnoses, it is a syndromic condition that includes coloboma and frequently associated with each other. Therefore, a retinal exam should become part of the standard protocol for those with FHS, as proper diagnosis, examination and treatment can prevent irreversible retinal damage.

UNASSIGNED: This case report discusses the management of a patient with a superior chorioretinal coloboma-associated retinal detachment (RD), including surgical management, along with a review of the literature.
UNASSIGNED: A case report is presented.
UNASSIGNED: A 58-year-old man presented with a chronic RD of the right eye that was symptomatic for approximately 1 year prior to presentation. On examination, he was found to have a macula-off RD associated with superior chorioretinal coloboma. He underwent 23-gauge pars plana vitrectomy with membrane peel, endolaser, and perfluoropropane (14%) gas tamponade. Three months after his surgery, his best-corrected visual acuity in his right eye was 20/250 distance and 20/80 near, and his retina remained attached.
UNASSIGNED: This case report describes surgical management of a superior chorioretinal coloboma-associated RD.

UNASSIGNED: To present the retinal and systemic findings in two siblings with compound heterozygous MPDZ variants that were found to have different chorioretinal manifestations. Materials and Methods: Two sibling patients underwent comprehensive ophthalmic examination, including ophthalmoscopy, fundus photography, optical coherence tomography (OCT), and genetic testing by whole exome sequencing.
UNASSIGNED: A 4-year-old male presented with intermittent exotropia and decreased vision in both eyes. Ophthalmologic examination was notable for macular colobomas and far temporal chorioretinal atrophy in both eyes. OCT of the macula in both eyes demonstrated a caldera with severe retinal and choroidal thinning. Fluorescein angiography of the central macula showed hypofluorescence with persistence of deep choroidal vessels. An ocular gene panel was nondiagnostic, but subsequent whole-exome sequencing noted compound heterozygous, likely pathogenic MPDZ variants (c.3100C>T p.(Arg1034*) from father and c.747 + 2T>G p.(?) from mother). His older brother, a 9-year-old male, had a history of macrocephaly but had not undergone further workup. On exam, he had a visual acuity of 20/25 in the right eye and 20/40 in the left eye and was found to have subtle changes in the foveal reflex of both eyes. OCT revealed thinning of the outer nuclear layer (ONL) temporal to the fovea bilaterally. Sanger sequencing revealed he was positive for the same two MPDZ variants.
UNASSIGNED: MPDZ variants have been described in cases of congenital hydrocephalus with varying ophthalmologic manifestations. We present a case series describing retinal phenotypes associated with MPDZ variants in a single family through multimodal imaging.

Joubert syndrome (JS) is a rare, autosomal recessive, genetic syndrome that derives from the defects in a sensory organelle, the primary cilia. It is a multiorgan disorder affecting the brain, kidneys, liver, and eyes. The most common presenting feature in the newborn period is hypotonia, abnormal eye movements, irregular breathing pattern, characterized by episodic hyperpnea and apnea, later on, ataxia, and developmental retardation. Besides, a range of highly variable, systemic and ocular features can be present. We report a case of 2-month-old female infant, the product of a consanguineous marriage, with a sibling affected by JS, presenting with intermittent hyperpnea, apnea, facial dysmorphism, strabismus, oculomotor apraxia, proptosis, retinal dystrophy, chorioretinal coloboma, and large retrobulbar cysts communicating with the coloboma. Magnetic resonance imaging of the brain revealed the characteristic neuroradiologic finding, the \"molar tooth sign.\" The child does not fix or follow the light, and the visual prognosis with all the ocular features of the syndrome present is extremely poor. In addition to adding to the diversity of ocular phenotypes, this case reiterates the importance of identifying the syndrome, understanding the varied ocular phenotypic presentations, need for further research on causative genes, prenatal diagnosis in affected families, interventions, and adequate genetic counseling.

Ocular coloboma is a rare congenital anomaly that arises due to an abnormality in embryogenesis. It occurs due to failed fusion of the embryonic fissure resulting in a persistent defect. Colobomas may present with vision loss but are most commonly asymptomatic and diagnosed incidentally. In this article, we present a case of asymptomatic chorioretinal coloboma diagnosed on routine screening. The patient was managed with prophylactic argon laser retinopexy to prevent complications leading to visual impairment in the future.

暂无摘要。

Chorioretinal coloboma is a congenital anomaly which can be present in a clinical spectrum with a possibility of significant influence on visual acuity. Optical coherence tomography (OCT) has been frequently used for the study of chorioretinal coloboma. OCT angiography (OCTA), as a non-invasive method of taking high-resolution images of chorioretinal vessels, can improve our understanding of developmental aspects of this anomaly.
This observational case series evaluated patients with chorioretinal coloboma, who were referred to the eye clinic of a university-based hospital between March 2018 and October 2019. All patients underwent comprehensive ocular examination, OCT, and OCTA using AngioVue technologies from the colobomatous sites.
This study included OCTA imaging of five patients (six eyes) with chorioretinal coloboma lesions. Large retinal vessels, which were intact in all eyes, coursed through the coloboma in four cases and around the margin of the involved area in one case. Attenuation of the microvasculature in the vicinity of coloboma with various extents from nearly normal to severe attenuation was evident in OCTA. Five eyes of four patients had disorganized superficial vessel plexus. Also corkscrew vessels were found in one eye.
This is the first study assessing the vascular pattern in the vicinity of chorioretinal coloboma using OCTA. OCTA revealed nearly normal to severely attenuated retinal microvasculature. At the same time, intact large retinal vessels at the level of superficial vessel plexus coursed across or around the coloboma. OCTA imaging adds new insights about vascular characteristics in the vicinity of these lesions.

暂无摘要。

Macular coloboma is a rare eye condition that affects around 0.5-0.7/10,000 of live births. Macular coloboma appears as a well-demarcated atrophic lesions that could affect one eye or both eyes on fundus examination. This is a case of a 33-year-old male patient who presented to the outpatient clinic with a history of poor vision in the left eye since childhood. He had a history of strabismus surgery for sensory exotropia (XT) in the left eye. Anterior segment examination of both eyes was normal while the fundus examination of both eyes revealed bilateral chorioretinal lesions in the macula which was larger in the left eye (OS) than the right eye (OD), representing bilateral chorioretinal coloboma. Congenital coloboma is a rare eye condition that leads to non-progressive decrease in visual acuity. Optical coherence tomography (OCT) is the modality of choice in diagnosing and describing macular coloboma.

UNASSIGNED: We report the case of a 19-year-old patient who presented with an ocular hypotony due to a transscleral filtration through an isolated congenital chorioretinal coloboma in his right eye.
UNASSIGNED: The initial examination showed a decimal best corrected visual acuity (BCVA) decreased to 0.7 and a marked hypotony. A localized infero-nasal chemosis and a conjunctival hyperemia were observed. The fundus examination showed chorioretinal folds and an edematous disc. In the infero-nasal retinal periphery, a chorioretinal coloboma was seen with a full-thickness scleral defect. Ultrasound biomicroscopy showed the area of the coloboma through which the percolation of fluid occurred.
UNASSIGNED: A favorable outcome was observed within 6 weeks and BCVA improved to 1.0 three months later. The intraocular pressure (IOP) increased to 11 mmHg, but the bleb-like filtration could still be seen together with some persistent chorioretinal folds. Ultrasound Biomicroscopy (UBM) imaging was helpful to understand the mechanism of this uncommon complication of a coloboma.