Bilateral corneal dermoids associated with bilateral choroido-scleral colobomas in a cat: retinographic and optical coherence tomography study with surgical outcome and follow-up.

PURPOSE: To report a case of feline bilateral corneal dermoids, associated with unilateral iris coloboma and bilateral choroido-scleral colobomas in the same dorsolateral position, to describe retinographic and optical coherence tomography (OCT) characteristics, surgical outcome, and follow-up. ANIMAL STUDIED: A 9-month-old domestic shorthaired cat in which a full ophthalmoscopic examination was performed for evaluation of dermoids resulting in a diagnosis of associated iris coloboma in one eye and posterior colobomas in both eyes. PROCEDURES: Retinographies and OCT were performed under anesthesia to characterize the lesions of both fundi and allow surgical excision of the corneal dermoids. RESULTS: Ophthalmoscopy and retinographies revealed oval lesions in the dorsolateral fundi of both eyes. The lesions precisely mirrored their respective dermoids' (10-11 h OD and 1-2 h OS) clock positions, lacked a tapetum lucidum and choroidal vessels, and featured thin retinal vessels plunging to a posterior plane of the fundus. OCT crossline scans demonstrated preservation of retinal thickness and morphological layering in the fundic colobomas leading to the conclusion that the colobomas were purely choroido-scleral. The outcome of the surgical excision of the dermoids was satisfactory without hair recurrence and with acceptable corneal clarity making it possible to visualize the unilateral associated iris coloboma. Follow-ups did not reveal any fundic evolution nor retinal detachment. CONCLUSIONS: Retinographies and OCT made possible the characterization of choroido-scleral colobomas associated with corneal dermoids in this first reported case in a cat. We hypothesize that the recently described superior ocular sulcus might be the embryological link between these anomalies.

An unusual ophthalmic presentation of Wolf-Hirschhorn syndrome.

Purpose: Wolf-Hirschhorn syndrome (WHS) is a rare inherited disease caused by the deletion in short arm of 4th chromosome. Various ocular manifestations in WHS have been described previously. We present an extraordinary clinical case of WHS associated with optic nerve head malformation and optic nerve sheath enlargement in the same eye.Methods: Case reportResults: A male infant was delivered by Caesarean section at 38 weeks with a birth weight of 2040 gr and admitted to neonatal intensive care unit due to multi-systemic abnormalities. The infant had multiple congenital anomalies; a cleft palate, microcephalia, micrognathia, renal pelvicalyceal ectasia, atrial septal defect, transvers arcus hypoplasia, patent ductus arteriosus, hypospadias and undescended testicle. Fundus examination revealed optic disc coloboma of both eyes. Two weeks later, at the second examination, the left optic disc margins were indistinct with vessels radiating from the disc margins which resembles morning glory disc anomaly (MGDA). The MRI demonstrated corpus callosum agenesis and a T1 hypointense, T2 hyperintense, 12 × 9 mm optic nerve sheath enlargement in the retrobulbar area.Conclusion: The case presented here demonstrates that, the optic nerve head malformations and optic nerve sheath enlargement may be due to incomplete closure of choroidal fissure and subsequent accumulation of cerebrospinal fluid may result in a spectrum of optic nerve head malformations.

Intravitreal ranibizumab for the management of serous maculopathy secondary to optic disc coloboma-associated choroidal neovascularisation.

We report the case of a 19-year-old patient with symptomatic unilateral serous maculopathy associated with an optic nerve coloboma. Fluorescein angiography detected a focal late leak at the temporal edge of the coloboma which was later found to correspond with an area of choroidal neovascularisation on optical coherence tomography angiography. A course of intravitreal ranibizumab achieved good clinical and structural response. This report contributes to the evidence that maculopathies associated with cavitary optic nerve anomalies may in some instances result from choroidal neovascularisation. It also highlights the importance of angiography to identify potential choroidal neovascular membranes, particularly in the absence of haemorrhages and neovascular membranes on fundus examination and conventional optical coherence tomography.

Lacrimal drainage anomalies in Tessier cleft 3 with unilateral anophthalmos.

Bilateral Tessier cleft types 3 and 4 are rare and commonly involve the lacrimal drainage system owing to their anatomical location. Such clefts commonly present with associated ocular anomalies and include colobomatous eyelids, hypertelorism, microphthalmia, punctal or canalicular agenesis, and nasolacrimal duct obstruction or exstrophy. The current report presents an 18-month-old baby with bilateral Tessier cleft 3 with a unilateral anophthalmos, symmetrical eyelid colobomas, and lacrimal drainage anomalies. The lacrimal anomalies noted include small lacrimal sac with inferior canaliculus on the right side and upper and lower punctal and canalicular agenesis on the left side. Computed tomographic dacryocystography demonstrated unilateral lacrimal sac and bilateral maldevelopment of the bony nasolacrimal duct.

Compound heterozygous splicing CDON variants result in isolated ocular coloboma.

Ocular coloboma is caused by failure of optic fissure closure during development and recognized as part of the microphthalmia, anophthalmia, and coloboma (MAC) spectrum. While many genes are known to cause colobomatous microphthalmia, relatively few have been reported in coloboma with normal eye size. Genetic analysis including trio exome sequencing and Sanger sequencing was undertaken in a family with two siblings affected with bilateral coloboma of the iris, retina, and choroid. Pathogenic variants in MAC genes were excluded. Trio analysis identified compound heterozygous donor splice site variants in CDON, a cell-surface receptor known to function in the Sonic Hedgehog pathway, c.928 + 1G > A and c.2650 + 1G > T, in both affected individuals. Heterozygous missense and truncating CDON variants are associated with dominant holoprosencephaly (HPE) with incomplete penetrance and Cdon-/- mice display variable HPE and coloboma. A homozygous nonsense allele of uncertain significance was recently identified in a consanguineous patient with coloboma and a second molecular diagnosis. We report the first compound heterozygous variants in CDON as a cause of isolated coloboma. CDON is the first HPE gene identified to cause recessive coloboma. Given the phenotypic overlap, further examination of HPE genes in coloboma is indicated.

Prenatal description of retinal coloboma.

Retinal coloboma is a rare condition which is difficult to diagnose in foetuses. It can cause blindness. It can be isolated or associated with other malformations in various syndromes. Our objective is to describe the different prenatal ultrasound findings and management of coloboma. We describe a case of prenatal ultrasound diagnosis of retinal coloboma at 27.5 weeks of gestation. Our case adds to the 8 previously reported in the prenatal ultrasound literature, which together illustrate that microphthalmia is the main associated sign, present in 66.6% (6/9) of cases followed by retro-orbital cysts (44.4%) (4/9). These two ultrasound findings should alert us to a close examination of the eye to look for a posterior retinal cleft, the main direct sign of a chorioretinal coloboma.

Exame ultrassonográfico no diagnóstico de coloboma retinocoroidiano bilateral / Ultrasonographic examination in the diagnosis of bilateral retinochoroid coloboma

Resumo Relatamos aqui o caso de E.R.S.S., feminino, 43 anos, diagnosticada com coloboma de retina e coroide bilateral, afim de enfatizar a importância dos exames pré-operatórios, até mesmo de uma boa tomada de projeção luminosa, a qual está sendo muitas vezes relegada a um patamar desprezível dentro da prática oftalmológica. Salientamos também que o exame ultrassonográfico prévio à indicação cirúrgica é de suma importância, no entanto, esse deve ser realizado por profissional experiente e sua correta interpretação deve ser exaustivamente procurada para que erros interpretativos não se transformem em conduta clínico cirúrgica inadequada e consequentes danos, muitas vezes, irreparáveis. Considerando-se todos os aspectos e complicações do coloboma já citados nesse relato, a conduta diante de um diagnóstico dessa malformação deve ser: pesquisar associação com outras doenças oculares e/ou sistêmicas (CHARGE: coloboma, cardiopatia congênita, atresia de coana com múltiplas anomalias), realizar tratamento e acompanhamento em caso de complicações (Ex. descolamento de retina, ambliopia e estrabismo) e prevenção é feita através de aconselhamento genético.

Abstract We report here the case of E.R.S.S. female, 43 years old, diagnosed with bilateral coloboma of choroid and retina, in order to emphasize the importance of preoperative exams, even a good shot of light projection, which is often being relegated to a negligible level in ophthalmological practice.We emphasize also that the ultrasound examination prior to the surgical indication is of paramount importance, however,this should be performed by experienced professional and the correct interpretation must be thoroughly searched for interpretative errors not become inadequate surgical clinical conduct and consequential irreparable damage. Considering all aspects and complications already mentioned in this report, coloboma to conduct before a diagnosis of this malformation should be: search for association with other eye diseases and/or systemic (CHARGE: coloboma, congenital heart defect, atresia of posterior nasal apertures with multiple anomalies), performing and monitoring treatment in case of complications (E.g. retinal detachment, amblyopia and strabismus) and prevention is made through genetic counseling.

Proboscis Lateralis With Heminasal Hypoplasia.

Proboscis Lateralis is a rare congenital anomaly composed of an accessory tubular appendage with possible associated craniofacial anomalies. Computed tomography scan is essential for evaluation of the anomaly and proposing a plan of management. Treatment is complex and should be individualized. The authors present the case of an 18-month old female with left proboscis lateralis associated with left heminasal hypoplasia and coloboma of the left upper eyelid.

Coexistence of optic pit and coloboma of iris, lens, and choroid: a case report / Coexistência de fosseta óptica e coloboma de íris, cristalino e coroide: um primeiro relato de caso

ABSTRACT A 42-year-old woman was admitted to our clinic with a complaint of glare in both eyes. Biomicroscopic examination of both the eyes revealed iris and lens colobomas in the inferior quadrant. Fundus examination of the right eye revealed an oval and gray inferotemporal optic pit and two choroid colobomas in the inferior quadrant. In the left eye, two choroid colobomas were detected that were inferior to the optic nerve head. Furthermore, a 21-year-old man presented to our clinic for a routine ophthalmologic examination. Bilateral biomicroscopic examination was normal. Fundus examination of the left eye revealed an oval and gray inferotemporal optic pit and a choroid coloboma that was inferior to the optic nerve head. Here we describe optic pits co-occurring with iris, lens, and choroidal colobomas. On the basis of these cases, a defect in the closure of the embryonic fissure is the most plausible etiology of the optic pit.

RESUMO Uma mulher de 42 anos de idade foi internada em nossa clínica com queixa de ofuscamento em ambos os olhos. O exame biomicroscópico revelou coloboma de íris e cristalino no quadrante inferior em ambos os olhos. O exame de fundo do olho direito revelou um fosseta óptica oval e acinzentada na região inferotemporal e dois colobomas coroide no quadrante inferior. No olho esquerdo, dois colobomas de coroide foram detectados inferiormente à da cabeça do nervo óptico. Outro homem de 21 anos apresentou-se em nossa clínica para um exame oftalmológico de rotina. O exame biomicroscópico foi normal, bilateralmente. O exame de fundo do olho esquerdo revelou uma fosseta oval e acinzentada de nervo óptico óptico inferotemporal e um coloboma coroide inferior à cabeça do nervo óptico. Nestes relatos nós descrevemos fossetas ópticas ocorrendo simultaneamente com colobomas de íris, cristalino, e coroide. Com base nestes casos, o defeito no fechamento da fissura embrionária é uma provável etiologia da fosseta óptica.

Hypotonic maculopathy secondary to scleral defect in atypical retinochoroidal coloboma.

PURPOSE: To describe a patient with unilateral hypotonic maculopathy and optic disc edema after spontaneous bulbar perforation of a full-thickness scleral defect. METHODS: An 11-year-old girl underwent scleral buckling surgery. Preoperative and postoperative evaluation included optical coherence tomography and high-resolution 3T magnetic resonance imaging. RESULTS: The scleral defect was covered with Tenon capsule sheaths and a meridional silicone buckle. One year postoperatively, visual acuity and macular and optic disc morphology were completely restored. CONCLUSIONS: Ocular hypotony related to a defect of the sclera forming the roof of a retinochoroidal coloboma is a rare event. Hypotony was a consequence of a defect at the level of an atypical retinochoroidal coloboma where the scleral wall was found to be absent.

Clinical and Echographic Features of Retinochoroidal and Optic Nerve Colobomas.

PURPOSE: We reported the clinical and echographic features of colobomas, prevalence of retinal detachment, and associated visual acuity in these patients. METHODS: The study is a nonrandomized consecutive case series of 140 colobomatous eyes in 98 patients (age range, 0-83 years). Coloboma depth, width, volume, and relative coloboma excavation (coloboma depth/axial length) were measured using standardized echographic images. The presence of structural and other ocular abnormalities was noted. The clinical and echographic findings present were correlated with visual acuity of the patient. In addition, these features were correlated with the presence or absence of retinal detachment. RESULTS: Increased relative coloboma excavation was significantly associated with an increased risk of retinal detachment. A relative coloboma excavation (ratio of coloboma depth to axial length) greater than 0.15 was associated with an increased risk of retinal detachment (52%), compared to those with a relative coloboma excavation less than 0.15 (23%, P = 0.014). The presence of any structural abnormality and the presence of a retrobulbar cyst were associated with increased risk of retinal detachment and severe visual impairment (worse than 20/200). Increased coloboma depth, width, volume, and relative coloboma excavation were not associated with increased risk of severe visual impairment. CONCLUSIONS: Clinical and echographic features of colobomas may be used in predicting the risk of retinal detachment. Measuring relative coloboma excavation upon presentation may alter follow-up and assist in the diagnosis of retinal detachment.

Prenatal diagnosis of colobomatous microphthalmos.

Optic nerve coloboma and microphthalmos with colobomatous cyst are rare congenital anomalies that are difficult to detect on prenatal ultrasonography and magnetic resonance imaging. Only four cases of optic nerve coloboma and two cases of microphthalmos with colobomatous cyst have been detected on prenatal imaging. The authors report a case of a fetus initially suspected to have retinoblastoma of the right eye on prenatal ultrasonography who was later diagnosed as having microphthalmos on fetal magnetic resonance imaging. Following delivery, she was noted to have microphthalmos with colobomatous cyst of the right eye and optic nerve coloboma of the left eye. The authors also review the prenatal ocular imaging findings of the differential diagnosis.

Intraorbital Cystic Lesions: An Imaging Spectrum.

Presence of a cyst or a cystic component in an intraorbital mass often narrows the list of differential diagnoses to specific entities. Such a lesion in the orbit may arise from structures within the orbit, globe, and lacrimal system or from neighboring paranasal sinuses or meninges. Common congenital and developmental lesions encountered within the orbit include dermoids and epidermoids, and infrequently coloboma. Parasitic cysts (cysticercus), orbital abscess, mucocele, and vascular lesions are the most common acquired pathologies giving rise to fluid-containing lesions within the orbit. The role of a radiologist is crucial in expediting the diagnosis of orbital lesions with the help of characteristic imaging features on ultrasound, computed tomography, or magnetic resonance imaging. It also helps in identifying complications in others where formulation of an early and effective management strategy is vital for preserving vision.

Pre- and postnatal imaging of Pai syndrome with spontaneous intrauterine closure of a frontal cephalocele.

Pai syndrome is a rare congenital disorder characterized by cutaneous polyps of the face, pericallosal lipoma and median cleft lip. We report on a newborn girl with a variant of Pai syndrome presenting with all typical findings except a median cleft. In addition, fetal sonography and MRI showed the unique intrauterine evolution of a cephalocele into an atretic cephalocele.

Otodental syndrome: a case presentation in a 6-year old child.

BACKGROUND: Otodental syndrome is a rare condition characterised by globodontia, and sensorineural high frequency hearing loss. To date, only 20 cases of otodental syndrome have been reported. CASE REPORT: A 6 year-old girl presented with a chief complaint of delay in the eruption of primary canines. Following clinical, radiographic and audiologic evaluations, the patient was diagnosed with otodental syndrome. CONCLUSION: Globodontia is a diagnostic feature of the otodental syndrome, which often provides the path to discovery of the associated hearing loss. Missing teeth, arch-size discrepancies, chewing problems and teething disturbances are the other major complications.

Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case.

Nasopalpebral lipoma-coloboma syndrome is an extremely uncommon autosomal dominant condition characterized by congenital upper eyelid and nasopalpebral lipomas, colobomata of upper and lower eyelids, telecanthus, and maxillary hypoplasia. A few familial and sporadic cases of this malformation syndrome have been previously reported. Here, the clinical, radiological, and histopathological features of a sporadic Mexican patient with the nasopalpebral lipoma-coloboma syndrome are described. To our knowledge, this is the first time that craniofacial 3D computed tomography imaging was used for a detailed assessment of the facial lipoma.