Macular corneal dystrophy with iridofundal coloboma in the same patient: a unique combination.

A young a presented with painless, progressive diminution of vision in both eyes (BE). Slit lamp examination revealed the presence of a single central corneal opacity in the right eye and multiple corneal opacities of varying sizes in the left eye (LE), limited to the anterior-mid corneal stroma. Microcornea with reduced central corneal thickness and complete inferonasal iris coloboma along with inferior fundal coloboma, sparing both the disc and macula, were noted in BE. A diagnosis of BE macular corneal dystrophy (MCD) and iridofundal coloboma (IFC) was made. The patient underwent LE sutureless anterior lamellar therapeutic keratoplasty. On histopathological examination, the excised corneal tissue revealed stromal lamellar disarray with positive colloidal iron staining, strongly suggestive of MCD. Whole-exome sequencing revealed the presence of a likely pathogenic carbohydrate sulfotransferase 6 (CHST6) mutation, confirming the diagnosis of MCD. This concurrent presence of IFC with a corneal stromal dystrophy is previously unreported in the literature, to the best of our knowledge.

Couching of cataractous lens in microphthalmic eyes with irido-fundal coloboma: revisiting the historical technique.

PURPOSE: Cataract surgery in microphthalmic eyes is challenging due to anatomical restraints, hard bulky nucleus. This series aims to evaluate the safety and efficacy of couching of intraocular lens in irido-fundal coloboma with microphthalmos. SETTING: Tertiary care centre in South India. DESIGN: Retrospective non-comparative study in eyes with irido-fundal coloboma, corneal diameter < 7 mm and brown cataract. Visual acuity less than 6/60 in other eye. METHODS: Anterior chamber entry made, zonules broken and lens dislocated into the vitreous cavity in a controlled manner. Baseline Clinico-demographic details, corrected distance visual acuity (CDVA), Intra-ocular pressure (IOP), corneal diameter, axial length, lens status and post-surgery CDVA, IOP and complications recorded and followed up for atleast 6 months. RESULTS: Fifteen eyes of 15 subjects were evaluated with a mean age 49.4 ± 10.9 years. At baseline, mean IOP 14.5 ± 3.8 mmHg, mean axial length 19.3 ± 0.5 mm, mean corneal diameter was 6.5 ± 0.34 mm and CDVA 2 logMAR which improved to 1.5 logMAR at 3 months (p value 0.002). Transient spike in IOP in 33.3% subjects was medically managed with no significant difference in IOP (p > 0.05) at baseline (14.5 ± 3.8 mmHg), 3 months post-surgery (16 ± 2.8 mmHg) and 6 months post-surgery (14.9 ± 2.5 mmHg). One patient underwent re-couching. No other major complications were noted. CONCLUSION: Couching of cataractous lens is an effective and safe method in microphthalmic eyes with irido-fundal coloboma as last resort procedure, where no other surgical procedure may work. It provides an ambulatory gain of visual acuity in previously non-ambulatory subjects. Corneal measurements help in determining the subset of patients where couching offers viable option.

Reconstruction of an Eyelid Defect Associated with Congenital Coloboma in a 7-Month-Old Male Infant Using an Acellular Dermal Allograft.

BACKGROUND Congenital eyelid coloboma in children often faces complications such as keratitis, symblepharon, and amblyopia. Repairing defects involving at least 50% of the eyelid margin can be challenging. Acellular dermal allograft (ADA) has achieved excellent results as a substitute in adult eye plastic surgery, with minimal morbidity. This report describes a case of reconstruction of an eyelid defect in a 7-month-old male infant using an ADA. CASE REPORT A 7-month-old male infant was referred due to congenital eyelid coloboma in the left eye, which affected nearly one-half of the upper and lower eyelids medially, with more than 9 mm of lagophthalmos and lacrimal duct malformation inducing dacryocystitis. Under general anesthesia, A U-shaped silicone drainage tube was inserted in the nasolacrimal duct to ensure an unobstructed lacrimal duct. The symblepharon release, pseudopterygium excision, and medial canthus reconstruction were performed sequentially. Then, the upper eyelid defect was repaired through the advancement of the lateral segment of the eyelid, following lateral cantholysis. A trimmed ADA was placed as a substitute for the tarsal plate in the lower eyelid defect area and sutured with the free edge of the retractor. Finally, the lower and lateral skin orbicular muscle flap was advanced to cover the acellular dermis composite graft. The postoperative eyelid morphology was satisfactory. At 6 months after surgery, lower eyelid retraction gradually appeared. CONCLUSIONS ADA is presented as an effective solution for reconstructing significant eyelid defects of infants. However, the potential of postoperative eyelid retraction still deserves future research and refinement in surgical techniques.

Double temporal retinochoroidal coloboma with posterior embyotoxon and persistent pupillary membrane: a case report.

Ocular colobomas are typically located in the inferonasal quadrant and attributable to defective fetal fissure closure. Colobomas can, however, affect any part of the eye, from the eyelid to the optic nerve. We present the case of a 7-year-old girl with two retinochoroidal colobomas in an atypical temporal location, with associated other ocular defects.

Implantable Collamer Lens Subluxation in a Patient with Lenticular Coloboma: A Case Report.

BACKGROUND The efficacy and safety of the implantable collamer lens (ICL) in correcting high astigmatism have been previously reported. They are commonly used as an alternative to laser refractive surgery due to advantages such as leaving the cornea untouched, inducing fewer higher-order aberrations, resulting in better optical and visual quality, and it is a reversible procedure. We aim to present the outcome of ICL in managing anisometropia without cataract in an eye with unilateral lenticular coloboma. CASE REPORT A 27-year-old man with a Marfanoid body habitus was seeking refractive surgery for the correction of high astigmatism in the right eye. On presentation, the best corrected visual acuity was 20/30 and 20/20 in the right eye and left eye, respectively. Slit lamp examination indicated inferior lens coloboma extending from the 5 o'clock to the 7: 30 o'clock position in the right eye, after dilation of pupil. Following a complete refractive work-up, a toric ICL implantation was the presumed suitable surgery. Three weeks postoperatively, central vaulting was low, his ICL subluxated inferiorly, and the previously implanted temporal footplates were resting over the lenticular defect inferiorly. A high-resolution ultrasound biomicroscopy confirmed the presence of a ciliary body (CB) cyst at 9 o'clock position. Urgent explantation of the unstable ICL was performed. CONCLUSIONS This case report emphasizes the challenges and limitations associated with ICL implantation in patients with lenticular colobomas and coexisting CB cyst. Selecting smaller lenticular colobomas and avoiding direct interaction between the weak zonules area and the ICL haptics are important steps to ensure the stability of implanted lens.

MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.

Four members of a three-generation Czech family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204. The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in MIR204. Chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature cataracts extending the phenotypic range of the condition. In silico analysis of the n.37C>T variant revealed 713 novel targets. Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants. Haplotype analysis excluded relatedness with the original family reported to harbour the n.37C>T variant in MIR204. Identification of a second independent family confirms the existence of a distinct MIR204-associated clinical entity and suggests that the phenotype may also involve congenital glaucoma.

The deceptive coloboma.

Background: Scleral fistulas are known to develop following blunt trauma in patients with retinochoroidal coloboma. These cases can be managed by surgical options such as silicone buckles, or with glue and scleral patch graft. Some cases have been shown to close spontaneously. We report the first-ever case managed by vitrectomy, endophotocoagulation, and gas tamponade. Purpose: We present a rare and interesting case of an atypical choroidal coloboma with traumatic scleral fistula due to blunt trauma manifesting with hypotony-related disc edema, maculopathy, and chorioretinal folds, which was managed surgically with vitrectomy, endophotocoagulation, and gas tamponade with a good anatomical and visual outcome. Synopsis: The video contains the case description and surgical management of a traumatic scleral fistula in a patient with atypical superotemporal choroidal coloboma. The patient developed hypotonic maculopathy and disc edema after 3 months following a blunt trauma sustained in a road traffic accident. A scleral fistula was suspected at the temporal edge of the coloboma but could not be accurately localized. In addition, due to the edge effect of the coloboma, the external repair was difficult. Hence, vitrectomy with internal tamponade was attempted. Highlights: The video highlights a different surgical approach to managing a traumatic scleral fistula at the edge of a retinochoroidal coloboma. There was a risk of leakage of intravitreal fluid into the orbit through the fistula; however, the gas bubble gave a better tamponade due to higher surface tension. It sealed the fistula presumably by creating a trap-door-like effect. The endophotocoagulation helped create adhesion between the tissues at the edge of the coloboma effectively sealing it. This was followed by a rapid recovery of the hypotony-related problems with good vision. Traumatic scleral fistula, at a difficult place such as the edge of a coloboma, can be successfully closed from an internal approach with vitrectomy, endolaser, and gas tamponade. Video link: https://youtu.be/6rxgtFyy6cw.

Bilateral Iridochorioretinal Coloboma Managed with Low Vision Rehabilitation: A Case Report.

Ocular coloboma is a rare congenital disability. If involving the macula, it affects the patient's vision and subsequently affects childhood development and quality of life in the future. Appropriate low vision aid and timely rehabilitation can provide the best possible quality of life for visually impaired children. We report a 9-year-old boy who presented with a diminution of vision in both eyes, and who was just enrolled in pre-school. He was diagnosed with bilateral iridochorioretinal coloboma associated with nystagmus and unilateral cataract. After all the necessary evaluation, a telescope was prescribed for distance and a dome magnifier for near. Furthermore, a peaked cap and photo grey lens were given for outdoor activities. This case highlights the importance of low vision intervention in a visually impaired child. Appropriate low vision aid and rehabilitation can improve patients' lifestyle and academic performance who are diagnosed with iridochorioretinal coloboma. Keywords: case reports; coloboma; ocular; rehabilitation; training.

Insights Regarding Optometric Findings of CHARGE Syndrome in a Pediatric Low Vision Clinic.

SIGNIFICANCE: CHARGE, named for common findings-coloboma, heart defects, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear anomalies-is a frequent etiology of deaf-blindness. A retrospective review in a pediatric low vision clinic presented the opportunity to investigate ocular findings in this syndrome with variable clinical presentations. PURPOSE: This retrospective study reviewed ocular findings and visual function measures from low vision evaluations of patients with CHARGE syndrome, which may influence their multidisciplinary management. METHODS: A retrospective chart review was conducted by three examiners of 60 patients presenting with CHARGE syndrome at a pediatric low vision clinic. Visual acuity and contrast sensitivity were obtained using standard measures. Ocular alignment and cycloplegic refractive error measurements were recorded. Refractive findings were analyzed using vector analysis. Anterior and posterior segment findings were recorded. RESULTS: Patients ranged in age from 1 to 29 years and were followed up for a mean of 4.3 years. Best-corrected visual acuity ranged from no light perception to 20/20 Snellen equivalent. Characteristics of strabismus, occurring in 82% of patients, were reported. Contrast sensitivity was reduced in 52% of patients. Chorioretinal colobomas were reported in 88% of patients. The most common ocular findings included nystagmus (43%), microphthalmia (27%), iris coloboma (27%), and facial nerve palsy (23%). Refractive vector analysis revealed significant myopic progression of the spherical equivalent with age and a tendency for with-the-rule astigmatism and minimal obliquity. CONCLUSIONS: This retrospective review of a relatively large sample size for this rare condition outlined the most common ocular manifestations of CHARGE syndrome. Decreased visual acuity, myopic refractive error, strabismus, and reduced contrast sensitivity were common. Thus, careful optometric evaluation in this population is required, as these findings must be considered in appropriate clinical and habilitative management.

Coloboma Accompanying Microphthalmos With Orbital Cyst in a Mother and Child.

Microphtalmos with orbital cyst is a rare congenital abnormality of the eye and orbit that is caused by incomplete closure of the embryonic fissure. The cysts project through in a coloboma of the affected eye. It may be sporadic or genetic. Herein, the authors present a 32-year-old mother with unilateral and her 4-month-old daughter with bilateral microphtalmos and accompanying orbital cyst.

A rare case of pediatric ptosis: Coexistence of giant intracranial arachnoid cyst and facial asymmetry.

BACKGROUND: Intracranial arachnoid cysts are cystic congenital malformations, filled with cerebrospinal fluid (CSF) originating from the arachnoid membrane. Generally, giant arachnoid cysts present with symptoms related to increased intracranial pressure, hydrocephalus or cognitive disorders, endocrinological problems, growth retardation, seizures, headache, and nonspecific symptoms such as dizziness. They can be detected by imaging when they become symptomatic or incidentally in childhood and adulthood. Our case was referred to our clinic because of ptosis and facial asymmetry found on examination. Subsequently, a intracranial giant arachnoid cyst was found incidentally on cranial computed tomography (CT). CASE: In an 18-month-old male infant admitted with ptosis, left frontal bulging and a dystopic globe with ptosis of the left upper lid were noted. The left half of the facial region and the left nostril also appeared to be asymmetrically elongated downward relative to the right. Fundus examination revealed an optic disc coloboma in the left eye. On general physical examination, he was unable to walk. A giant fronto-temporo-parietal arachnoid cyst with the cerebral parenchyma shifted 2cm to the right of the midline was observed on cranial CT. After a cysto-peritoneal shunt was performed, the physical appearance of our patient returned to normal. CONCLUSION: Ptosis cases accompanied by abnormalities such as optic disc coloboma and facial asymmetry should be evaluated for possible midline defects and intracranial pathologies prior to eyelid surgery.

OPTIC DISK COLOBOMA AND CONTRALATERAL OPTIC DISK PIT MACULOPATHY TREATED BY VITRECTOMY IN A PATIENT WITH NOONAN SYNDROME WITH MULTIPLE LENTIGINES.

PURPOSE: To report a case of Noonan syndrome with multiple lentigines with unusual ocular features. METHODS: The authors describe a case of a 7-year-old girl with Noonan syndrome with multiple lentigines and anomalous optic disks. RESULTS: A 7-year-old girl with genetically proven Noonan syndrome with multiple lentigines ( PTPN11 gene mutation) and anomalous optic disks was referred for treatment of persistent macular detachment after 1 year of conservative follow-up. The right eye demonstrated an optic disk coloboma with the best-corrected visual acuity of 20/32, the left eye demonstrated an optic disk pit with serous macular detachment (best-corrected visual acuity 20/50-20/80). Optical coherence tomography demonstrated a neurosensory detachment. Twenty-five gauge pars plana vitrectomy was performed with posterior hyaloid detachment, drainage over disk pit area, and SF6 20% gas tamponade. Surgery resulted in subretinal fluid reduction and improvement of the visual acuity to 20/32. CONCLUSION: A case of Noonan syndrome with multiple lentigines with optic disk coloboma in the right eye and optic disk pit with related maculopathy in the left eye. To the best of the authors' knowledge, this is the first reported case describing the association of Noonan syndrome with multiple lentigines and congenital optic disk anomalies. Optic disk pit maculopathy was managed surgically because of its longstanding nature with the deteriorating visual acuity.

Lunar lenses - Acquired lens colobomas.

Acquired lens colobomas secondary to ocular surgeries are scarcely described in the literature. We describe two cases of acquired lens coloboma in two infants with glaucoma who underwent ocular surgery. The coloboma in the first case was likely because of direct trauma to the lens zonules during an optical iridectomy with a vitrectomy cutter, resulting in localized loss of zonules and consequently localized lens coloboma. The coloboma in the second case was noticed during examination under anesthesia after scleral buckling and cryopexy for retinal detachment. The cause for coloboma development in this case could be disruption of the lens zonules because of stretching of the globe after scleral buckle surgery or because of injury to zonules during scleral buckling and the cryopexy procedure.

Optic Disc Pit Associated With Choroidal Coloboma: Case Report And Short Review.

Optic disc pits are hypothesized to form because of failure of embryonic fissure closure, which can also present with congenital defects in the choroid, RPE, and neurosensory retina. It is also associated with serous macular detachment. We present a case report of a 32-year-old man with an optic disc pit and independent choroidal coloboma below the inferior peripapillary area in the left eye, associated with macular retinoschisis with serous detachment.

[Occipital encephalocele and associated anomalies including bilateral eyelid coloboma, bilateral cleft lip/cleft palate, amniotic bands on the right leg with absence of toes on right and left feet at the University Clinics of Graben Butembo 2021: a case report]. / Encéphalocèle occipitale et anomalies associées: colobome palpébral bilatéral, fente labio-palatine bilatérale et bride amniotique sur la jambe droite avec absence des orteils sur pieds droit et gauche aux Cliniques Universitaires du Graben Butembo 2021 (à propos d'un cas).

Encephalocele is a malformation due to a defect in the closure of the neural tube causing herniation of brain tissue and/or meninges through this congenital skull defect. The size of encephalocele varies from a few centimeters to a huge mass called "giant encephalocele". Content usually consists of degenerative neural tissue, meninges and a cystic part. We here report the case of a 4-month-old infant, born of non-consanguineous parents, who was referred with congenital occipital mass. Upon arrival at our clinic, clinical examination revealed a weight of 3500g, a head circumference of 33 cm, with a non-bulging anterior fontanelle. She presented with a huge renitent occipital mass measuring 43X25cm, with a height of 15cm was found. absence of both eyelids, bilateral lip and palate fissures; a constriction ring on the right leg, absence of toes on the right and left feet. A diagnosis of an amniotic band syndrome was made, with as components: occipital encephalocele associated with a bilateral palpebral coloboma, a bilateral cleft lip and palate, and amniotic bands on the right leg, and amputation of the toes of the right and left feet.

RE-INVENTING CYANOACRYLATE RETINOPEXY IN THE 21ST CENTURY: LITERATURE REVIEW AND CASE SERIES.

PURPOSE: We report use of cyanoacrylate (N-butyl-Cyanoacrylate) in previously failed retinal reattachment surgeries for chorio-retinal colobomas. We report the surgical technique, its challenges, and long-term outcomes in three patients who underwent the surgery. METHODS: A chart review of patients with chorio-retinal colobomas and retinal detachment repair with cyanoacrylate at a tertiary eye care center in Nepal. Cyanoacrylate was used to seal colobomatous retinal breaks in eyes which had undergone multiple retinal surgeries with failed outcome. RESULTS: Three eyes that were operated using cyanoacrylate were included. All three patients had attached retina and none of the patients required a long-term tamponading agent. None of the patients underwent head positioning following the surgery. All of the patients had a visual acuity gain of 3/60 or more at the end of 8 months. No adverse or inflammatory reactions were noted. CONCLUSION: We demonstrate that cyanoacrylate is safe and less resource-demanding without a requirement of second surgery to remove a tamponading agent. It could be helpful in eyes with persistent retinal detachment in colobomatous eyes. Because we were able to achieve favorable outcomes without head positioning, we believe it may also be helpful in patients who are not suitable for positioning because of bodily or bony deformities and in retinal detachment with other coexisting trauma.

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.

BACKGROUND: Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and other congenital defects may also be observed. The typical associated cytogenetic anomaly relies on an extra chromosome, derived from an inverted duplication of short arm and proximal long arm of chromosome 22, resulting in partial trisomy or tetrasomy of such regions (inv dup 22pter-22q11.2). CASE PRESENTATION: We report on a full-term newborn, referred to us soon after birth. Physical examination showed facial dysmorphisms, including hypertelorism, down slanted palpebral fissures, and dysplastic ears with tragus hypoplasia and pre-auricular pit. Ophthalmologic evaluation and heart ultrasound identified left chorioretinal and iris coloboma and ostium secundum type atrial septal defect, respectively. Based on the suspicion of cat eye syndrome, a standard karyotype analysis was performed, and detected an extra small marker chromosome confirming the CES diagnosis. The chromosomal abnormality was then defined by array comparative genome hybridization (a-CGH, performed also in the parents), which identified the size of the rearrangement (3 Mb), and its de novo occurrence. Postnatally, our newborn presented with persistent hypoglycemia and cholestatic jaundice. Endocrine tests revealed congenital hypothyroidism, cortisol and growth hormone (GH) deficiencies, which were treated with replacement therapies (levotiroxine and hydrocortisone). Brain magnetic resonance imaging, later performed, showed aplasia of the anterior pituitary gland, agenesis of the stalk and ectopic neurohypophysis, confirming the congenital hypopituitarism diagnosis. She was discharged at 2 months of age, and included in a multidisciplinary follow-up. She currently is 7 months old and shows a severe global growth failure, and developmental delay. She started GH replacement treatment, and continues oral hydrocortisone, along with ursodeoxycholic acid and levothyroxine, allowing an adequate control of glycemic and thyroid profiles as well as of cholestasis. CONCLUSIONS: CES phenotypic spectrum is wide and highly variable. Our report highlights how among the possible associated endocrine disorders, congenital hypopituitarism may occur, leading to persistent hypoglycemia and cholestasis. These patients should be promptly assessed for complete hormonal evaluations, in addition to major malformations and midline anomalies. Early recognition of such defects is necessary to decrease fatal events, as well as short and long-term related adverse outcomes.