Bilateral Macular Coloboma Research Articles

Achondroplasia with macular coloboma and cone-rod dystrophy: a case report

Achondroplasia, an autosomal dominant congenital enchondral ossification, is clinically characterized by short stature, craniofacial, and bone deformities. Ophthalmic features include telecanthus and strabismus; cone-rod dystrophy can also be present. A 12-year-old male presented with decreased vision bilaterally, nystagmus, and achondroplasia. The best corrected visual acuity (BCVA) was Log MAR 1.0 in the right eye and Log MAR 0.8 in the left eye, the anterior segments showed no abnormalities, however the fundus showed bilateral macular coloboma. On electrophysiological assessment, there was also bilateral cone-rod dysfunction. As ophthalmic associations are common in Achondroplasia, thorough ophthalmological examination as well as electrophysiological assessment are mandatory.

Bilateral Congenital Macular Coloboma: Section A Case Report

Macular coloboma is a rare disorder with congenital retinochoroidal defect. It has been divided into three categoriesPigmented macular coloboma, non pigmented macular coloboma and macular coloboma with abnormal vessels. Here, the authors present two cases of bilateral congenital macular coloboma. The first case was a 25-year-old male with diminution of vision in both eyes since childhood with no associated family history and no history of any systemic illness. His serological investigations were unremarkable. Case-2 was a nine-year-old male who was accompanied by his mother with vague history of rubbing of both eyes since two months with no significant medical and family history. Patient was found to have diminished vision bilaterally during ophthalmological examination. No evidence of infectious disease could be found on laboratory investigations. Paediatric consultation of the patient was unremarkable. Diagnosis was made after correlating the clinical and Ocular Computed Tomography (OCT) findings. Case-1 is on regular follow-up since three years while Case-2 was lost to follow-up. It is very important to reach at a diagnosis in such cases as there are many conditions which can mimic macular coloboma and treatment modalities vary accordingly. Although visual prognosis in cases of macular coloboma is poor, regular follow-up of the patient is of utmost importance in order to monitor visual acuity and posterior segment for any retinal breaks at the edge of coloboma.

Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family.

Macular coloboma (MC) is a rare congenital retinochoroidal defect characterized by lesions of different sizes in the macular region. The pathological mechanism underlying congenital MC is unknown. Novel compound heterozygous variations, c.4301delA (p.Asp1434fs*3) and c.5255C>G (p.Ser1752Ter), in the multiple PDZ domain (MPDZ) proteins were identified via whole-exome analysis on the proband with isolated bilateral macular coloboma in a Chinese family. Segregation analysis revealed that each of the unaffected parents was heterozygous for one of the two variants. The results of the in silico and bioinformatics analysis were aligned with the experimental data. The knockdown of MPDZ in zebrafish caused a decrease in the ellipsoid zone, a destruction of the outer limiting membrane, and the subsequent RPE degeneration. Overall, the loss of MPDZ in zebrafish contributed to retinal development failure. These results indicate that MPDZ plays an essential role in the occurrence and maintenance of the macula, and the novel compound heterozygous variations were responsible for an autosomal recessive macular deficiency in this Chinese family.

Seronegative macular coloboma with multifocal choroiditis

Macular coloboma is a rare and distinct entity thought to be a consequence of a developmental abnormality or a resolved inflammation secondary to intrauterine or postnatal infection. Acquired macular scars are usually post-inflammatory scars secondary to chorioretinitis usually caused by toxoplasmosis, cytomegalovirus, and, rarely, ocular Toxocara infection. We report a unique case of seronegative bilateral macular coloboma with multifocal choroiditis in the right eye. To our knowledge, unilateral multifocal choroiditis has not been reported in association with bilateral macular coloboma in the literature.

Bilateral macular coloboma viewed through multimodal imaging

A 55-year-old female presented with a defective vision since childhood. The fundus examination revealed a well-demarcated macular excavation of 2 1/2 disc diameters. Optical coherence tomography (OCT) of both eyes revealed a bowl-like depression at the macula, absence of retinal pigment epithelium, and choroid with atrophic neurosensory retina. She was diagnosed as a case of bilateral macular coloboma. We wish to stress OCT and multimodal imaging's importance to diagnose macular colobomas and differentiate it from other disorders of the macula.

Two heterozygous mutations identified in one Chinese patient with bilateral macular coloboma

Congenital macular coloboma is characterized by defined punched out atrophic lesions of the macula. The present study aimed to investigate the genetic alterations of one Chinese sporadic patient with bilateral large macular coloboma. Complete ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination, fundus examination, fundus photograph and fundus fluorescein angiography imaging, Pentacam, and optical coherence tomography were performed on the patient. Genomic DNA was extracted from leukocytes in a peripheral blood sample collected from the patient, the patient's unaffected family members and from 200 unrelated control subjects from the same population. Next-generation sequencing of the known genes involved in ocular disease was performed. The functional effects of the mutation were analyzed using Polymorphism Phenotyping (PolyPhen) and Sorting Intolerant From Tolerant (SIFT). One heterozygous bestrophin 1 (BEST1) mutation c.1037C>A (p.Pro346His, p.P346H) in exon 9 and one heterozygous regulating synaptic membrane exocytosis 1 (RIMS1) mutation c.3481A>G (p.Arg1161Gly, p.R1161G) in exon 23 were identified in the patient being investigated, but not in the unaffected family members or unrelated control subjects. Polyphen and SIFT predicted that the amino acid substitution p.P346H in the BEST1 protein is damaging. In addition, Polyphen predicted that the amino acid substitution p.R1161G in the RIM1 protein is damaging. The results of the current study have increased the mutation spectrums of BEST1 and RIMS1, and are valuable for improving the current genetic counseling process and developing novel therapeutic interventions for patients with macular coloboma.

Bilateral macular coloboma of sorsby: contribution of the oct

AbstractPurpose To assess the contribution of the Optical Coherence Tomography (OCT) for the diagnosis of macular coloboma.Methods We report the case of a 33‐year‐old patient affected by a bilateral macular coloboma of Sorsby. The medical check‐up was negative. Eye fundus imaging, OCT and fluorescein angiography were performed.Results Eye fundus imaging found a deep macular defect putting the sclera to naked, pigmented, well bounded, with size about one papilla diameter in both eyes The fluorescein retinal angiography revealed a hypofluorescent macular lesion with a bigger size than the one visible at the eye fundus. The lesion was fulfilled with fluorescein in a heterogenous way during the angiographic sequence because of atrophic damage of the pigmentary epithelium and the infringement of the surrounding choroid layer area. The OCT showed in the crater shape a depression regarding the lesion with atrophy of the retinas neurosensory, the major damage of the pigmentary epithelium, the choroïd and scleral infringement regarding the lesion. We observed more marked deficits in the scleral and the choroïdal layers than in the neurosensory retina. However, changes within the retina were also visible in the form of microcysts and of disintegration of the retinal stratification.Conclusion In front of a crater macular pigmented lesion, the first diagnosis to think about is toxoplasmosis chorioretinitis, however you should not neglect a large number of other pathologies whithin the Sorsby coloboma because the scleral defect found in OCT is strongly suggestive. The OCT’s aspect of the macular lesion allows us to diagnose with more precision a macular infringement and to confirm the diagnostic of macular coloboma.

English

Macular colobomata refer to circumscribed, excavated defects in the choroid and retina at the macular area associated with decreased vision. Previous reports have speculated various causes for its occurrence. Familial cases of macular coloboma have roused the possibility of genetic etiology. Macular colobomas associated with systemic and other ocular abnormalities have been attributed to be either embryological maldevelopment or inflammatory etiology. Macular colobomata associated with skeletal abnormalities have been reported frequently. We report a 14-year old boy with an unusual presentation of extensive bilateral macular coloboma with planovalgus feet dynamics and left foot drop due to anterior horn cell disease.

Optical coherence tomographic findings at the fixation point in a case of bilateral congenital macular coloboma

BackgroundCongenital macular coloboma is a rare ocular disease that consists of atrophic lesions in the macula with well-circumscribed borders. We report the findings of spectral domain optical coherence tomography (SD-OCT) at the fixation point in a case of bilateral macular coloboma.Case reportThe subject is a 4-year-old boy. He visited our hospital at age 1 year and 4 months for the evaluation of strabismus. The fundus examination of both eyes showed round-shaped sharply-demarcated atrophic lesions involving the macula with large choroidal vessels and bared sclera at the base. Immunologic tests including toxoplasmosis, rubella, varicella, herpes virus, and human T-cell leukemia virus were all negative. At age 4 years and 1 month, cycloplegic refraction showed insignificant refractive errors and his best corrected visual acuity was 0.6 bilaterally. The SD-OCT showed a crater-like depression accompanying atrophic neurosensory retina, and the absence of retinal pigment epithelium and choroid. Examination of the fixation behavior by visuscope showed steady fixation with an area 0.5° nasal to the nasal edge of the atrophic lesion bilaterally. The SD-OCT findings at fixation area showed remaining normal retinal structures involving inner segment-outer segment (IS/OS) junction line.ConclusionThe findings of SD-OCT have been shown to be useful in the diagnosis of macular coloboma. In the fixation point, the structure of retina and choroid were well preserved.

Swept source optical coherence tomographic findings in a case of bilateral macular coloboma

AbstractPurpose To describe the findings of macular coloboma using swept‐source optical coherence tomography (SS‐OCT)Methods Case reportResults A 35‐year‐old man was found to have bilateral deep excavation of the maculae and was diagnosed clinically with bilateral macular coloboma. SS‐OCT showed deep excavation of the sclera corresponding to the area of coloboma. There is loss of overlying retinal pigment epithelium (RPE), neurosensory retina and choroid within the area of excavation. A thin membranous structure is seen overlying the area bared sclera. At both edges of the coloboma, intraretinal cystic changes can be seen.Conclusion The SS‐OCT is able to image the posterior border of the deep coloboma in this case. In addition, the detailed structure of the retinal layers can be studied. This membranous structure likely represents the remnants of degenerative neurosensory retina and internal limiting membrane. In addition, we also demonstrated intraretinal cysts, not previously reported, at the edges of the coloboma. The use of SS‐OCT technology has enabled the capturing of the retina, RPE and choroid at a much better resolution and this has served to provide greater understanding of the anatomical changes seen in macular coloboma.

Bilateral macular coloboma in a patient with retinitis pigmentosa like changes

AbstractPurpose To report a case with bilateral macular coloboma and RP (retinitis pigmentosa) like changes.Methods A 46‐year‐old female presented with macular coloboma in both eyes. There was a history of strabismic amblyopia in her right eye but no other contributory medical or family history.Best corrected Snellen visual acuity (BCVA) was measured and full ophthalmic examination was performed. Visual field testing, optical coherence tomography (OCT) and international‐standard electrophysiological (ISCEV) evaluation, including pattern and full‐field electroretinography (PERG and FFERG), were also performed.Results BCVA was hand movements in the right eye and 0.5 in her left eye. Fundoscopy revealed an oval sharply‐ demarcated defect at the macula with bare sclera at its base and pigment clumping, mainly in the right eye, resembling macular coloboma. There were also severe retinal vessel attenuation and scattered retinal pigmentary changes, occasionally resembling bone spicule RPE changes, in the retinal periphery in both eyes. Optic discs were pale bilaterally. Visual field testing demonstrated bilateral scotomas. OCT revealed a crater‐like depression at the macula with atrophic neurosensory retina and absence of retinal pigment epithelium (RPE) and choroid, more extensive in her right eye, where scleral excavation was also documented. Pattern ERG as an indication of macular function was extinguished in the right eye and severely affected in her left eye. Full field ERG was extinguished bilaterally for both scotopic and photopic responses.Conclusion Bilateral macular coloboma associated with RP like changes, an abnormal electroretinography and no relevant family history, may be indicative of a developmental retinal abnormality.

Optical coherence tomographic features in a case of bilateral macular coloboma with strabismus.

To report the optical coherence tomography (OCT) findings in a patient with bilateral macular coloboma with strabismus. A 21-year-old male presented with macular coloboma in both eyes.Fundus photography, fundus fluorescence angiography (FFA) and OCT were performed. Color fundus photography showed a sharply-demarcated, round macular defect, approximately 4×4 disc diameters with bare sclera at the base and pigment clumping in both eyes. FFA showed hypofluorescence at the macula corresponding to the size of the lesion bilaterally. OCT revealed a crater-like depression at the macula, demonstrating atrophic neurosensory retina, and an absence of retinal pigment epithelium (RPE) and choroid in the lesion. OCT can be a beneficial tool to confirm the diagnosis of macular coloboma.

Intraoperative OCT of Bilateral Macular Coloboma in a Child With Down Syndrome

A 3-year-old girl with Down syndrome presented with a macular lesion in both eyes. With intraoperative optical coherence tomography confirmation, the patient was diagnosed as having bilateral macular coloboma. These findings were previously reported in two patients with Down syndrome. The documentation of similar findings in three separate patients suggests that macular coloboma may be a rare ophthalmic pathology associated with Down syndrome. Moreover, optical coherence tomography imaging may be a useful adjunct in diagnosing macular coloboma in the pediatric population.

Bilateral Congenital Macular Coloboma in a Boy with down Syndrome

To describe macular coloboma in Down syndrome. A 12-year-old boy with Down syndrome underwent ophthalmologic examination. The patient had a circumscribed, round defect about 1 disc diameter, with bared sclera at the base and pigment clump at the macula in both fundi. His poor visual acuity was unchanged since childhood. The results of serum IgG and IgM titers for Toxoplasma gondii were negative. Congenital macular coloboma associated with Down syndrome, as demonstrated in our patient, may not have occurred by chance.

Dominant Macular Colobomata

Hereditary bilateral macular colobomata are not a consequence of an anomalous closure of the fetal fissure. Their extreme rarity, their lack of embryological explanation, and their morphologic similarity to postinflammatory congenital macular scars called the hereditary-malformative etiology of this entity in question. The authors describe a four generation family with seven affected members with isolated autosomal dominant bilateral macular colobomata.

Atypical macular coloboma (dysplasia) associated with familial juvenile nephronophthisis and skeletal abnormality

A malformation association comprising bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion is reported in two sisters. The association seems to represent a new, probably autosomal recessive, oculo-reno-skeletal syndrome.

A Case of Inner Ear Anomaly with Bilateral Macular Coloboma and Cervical Synostosis

A 22-year-old woman with an inner ear anomaly had bilateral macular coloboma and cervical synostosis. Both auricles, external auditory canals and tympanic membranes were normal, but she had total deafness of the left ear. X-ray of her left ear showed an inner ear anomaly called “a solitary sac-like deformity”.This very rare association of abnormalities did not fit any established syndrome of ear, eye and vertebral column anomalies such as Goldenhar's syndrome, Wildervanck's syndrome, etc.

CONGENITAL MACULAR “COLOBOMA” AND RETINAL APLASIA: a sibship of two males*

Two brothers of non‐consanguineous parents are described with bilateral macular colobomata and retinal aplasia. One other brother, two sisters and both parents are normal and no other member of the known family has defective vision from this cause. For this family the probability that autosomal recessive genes are responsible is 83 % while the possibility in favour of an X linked recessive gene is 17%. After the birth of the first blind child, no genetic counselling was requested or offered. The tragedy of a second affected child was completely unexpected by the parents. Recessive genes, autosomal if a female is involved, and also X linked if only male(s) are affected, should be specifically considered as a possible cause in any very rare or unknown bilaterally symmetrical eye disease even in the absence of consanguinity of parents.

Infantile fundus lesions in relation to mental capacity.

Developmental abnormalities and other congenital defects of the eye often remain unsuspected in the early weeks or months of life because newborn babies do not as a rule undergo detailed intraocular examination. For research purposes a clinic may go out of its way to scrutinize the ocular fundi and media in every infant, but in ordinary out-patient and office practice the need seldom arises. We know that the macula is not fully developed at birth, even in healthy full-term children, so that nurses, parents, and others in close contact with infants do not usually feel perturbed about a baby's blank stare?unless that vacant look persists beyond the time when a healthy baby should be taking in his en tourage with a purposive stare. If later on we discover a bilateral macular coloboma or any other fundus lesions ample to account for defective sight we can as a rule tell the parents that nobody could have prevented the trouble, and that no treatment, however promptly it had been given, could have made the eyes normal. Before mentioning some of the diseases in which fundus lesions may give a clue to the mental state, let us consider what kind of situation makes a parent or doctor wish to have an infant's eyes examined. 1. Ophthalmoscopy may be done as a routine precau tion in the absence of any unfavourable signs. Perhaps there is a history of eye trouble in other members of the family, or perhaps the parents are full of fear through having often heard eye defects discussed. 2. An explanation may be sought for abnormal signs in the eyes. For instance, one eye may be smaller than the other, or possibly there is nystagmus, proptosis, squint, inequality or peculiar shape of the pupils, or opacity of one or both lenses. 3. The victims of certain disease-states are prone to suffer from ocular complications, so that ophthalmo scopy may serve to clinch the diagnosis, as in Tay-Sachs disease or in toxoplasmosis. Then again, the family doctor may seek to know whether the optic disks are atrophie in cases of hydrocephalus, oxycephaly, or other deformities of the skull and face.

TWINNING AND OCULAR PATHOLOGY

Bilateral macular coloboma is a rare congenital anomaly, only a small number of cases having been reported. This makes the occurrence of four remarkably similar colobomas in the four eyes of a pair of twins especially noteworthy. Apart from their significance for ocular pathology, the cases reported herewith furnish a remarkable instance of exquisitely detailed concordance in monozygotic twins. We first present the results of comparative observations of twins A and B and then discuss the physiology of twinning in the genesis of coloboma. The literature is surveyed, and the reports of various ophthalmologic correspondences in twins are summarized to indicate the developmental factors at the basis of pathologic conditions of the eyes. REPORT OF CASE The subjects were a pair of otherwise relatively normal twin girls. In spite of their eagerness and vivacity they had been handicapped in their school progress and were referred to the Yale