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At least 253 records · Page 14Linked to original sources
PubMed2000

MCA/MR syndrome with severe pre- and postnatal growth retardation, deep mental retardation, distinct facial appearance with nasal hypoplasia, cleft palate and retino-choroidal coloboma in two unrelated female patients.

We describe the clinical findings and natural history in two unrelated deeply mentally retarded females, now 28 and 20 years old respectively. Both presented prenatal growth retardation and severe postnatal growth retardation. Their craniofacial appearance is distinct with nasal hypoplasia, triangular mouth and thin lips. Both have a cleft palate and a retinal coloboma at the right eye. Motor development is below the age of 1 year with a complex neurological syndrome with axial hypotonia and spastic quadriplegia.

Abnormalities, Multiple↗
PubMed2001

De novo ring chromosome 3 in a girl with hypoplastic thumb and coloboma of iris.

We describe a female child with a ring chromosome 3, found after investigation for short stature. Her karyotype was 46,XX,r(3)(p26-q29). Her phenotype mainly differs from that of the nine patients previously reported with ring chromosome 3, by the presence of hypoplastic right thumb and bilateral coloboma of the iris.

Child↗
PubMed2004

Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias.

Congenital bony fusion of the maxilla and mandible is a rare condition. Two classifications were previously proposed dealing exclusively with craniofacial malformations. Most of the reported cases to date represent either aglossia-adactylia or hemifacial microsomia syndromes. We report a young girl with bony syngnathia associated with multiple defects (severe microcephaly, coloboma, vertebral segmentation defects), growth and mental delay. This patient is very similar to the patient described by Dobrow in 1983 and confirms the existence of this extremely rare disorder.

Coloboma↗
PubMed1992

[Möbius syndrome and bilateral chorioretinal coloboma].

A child with palsy of the right facial nerve and bilateral palsy of the VIth, IXth and XIIth cranial nerves, dysfunction of the VIIIth cranial nerve, facial malformations and bilateral equinovarus was diagnosed on the basis of these features as having Moebius syndrome. Ocular studies disclosed congenital cataract and chorioretinal coloboma in both eyes. These ocular abnormalities have not previously been described in Moebius syndrome. This paper discusses whether the coexistence of these two types of anomalies may be due to occurrence of a break in the primitive internal carotid and trigeminal arteries between the fourth and fifth postconceptional weeks, causing maldevelopment of the choriocapillary and impairing neuron differentiation in cranial nerve nuclei.

Choroid↗
PubMed1992

Bilateral retinal detachment with large breaks of pars plicata associated with coloboma lentis and ocular hypertension.

A 39-year-old man developed bilateral, insidiously progressing detachment of the retina and nonpigmented epithelium of the ciliary body because of a large break in the pars plicata. The anterior segments had multiple malformations including ectopia of the lens associated with coloboma of the lens and hypoplastic ciliary processes. The pars plicata breaks were present in areas corresponding to the anomalies of the lens-zonule-ciliary body complex and caused progressive, shallow rhegmatogenous retinal detachments with anterior chamber cells and elevation of intraocular pressure. Surgeries with scleral buckling procedure combined with vitrectomy and lensectomy brought about reattachment of the retina. This case indicates that subtle anomalies in the lens-zonule-ciliary body complex might be an indication of a break in the nonpigmented epithelium of the ciliary body which could lead to rhegmatogenous retinal detachment. The mode of inheritance of the clinical syndrome remained undefined because of negative family history.

Adult↗
PubMed1990

[Therapy of central serous detachment in papillary coloboma. A case report].

A central retinal detachment caused by coloboma of the optic nerve head in one eye of a 34-year-old Caucasian male was treated successfully by pars-plana vitrectomy, endodiathermy of the hole situated at the periphery of the optic nerve head, drainage of the subretinal fluid and injection of silicone oil into the vitreous cavity. After removal of the silicone oil, the retina was still attached and the retinal function was unchanged. The clinical course is described.

Adult↗
PubMed1990

Macular coloboma.

Macular coloboma is a congenital retinochoroidal defect of the macular region. It is a bilateral, nonprogressive condition that is associated with decreased visual acuity and nystagmus. A case of a 14-year-old boy with an unusual presentation of extensive macular colobomata is described. Location of the lesions differentiated this case from true or typical retinochoroidal colobomata. Differential diagnosis also includes postinflammatory scarring.

Adolescent↗
PubMed1989

[Optic disk and choroidal coloboma].

Most of the optic nerve head abnormalities are clinically innocuous, but sometimes they can cause significant symptoms and lead to visual disturbance, or even to visual loss; optic pists can cause defects in the visual fields, not necessarily explicable by the serous maculopathy, that is the most important complication associated with optic pits. Our purpose is to present a case of an optic pit with sensory macular detachment associated with a choroidal coloboma located at a distance of two optic disc diameters from the optic nervehead. This finding to our knowledge has not been previously reported.

Adolescent↗
PubMed1989

Neurophysiological correlates in a case of unilateral iris and chorioretinal coloboma.

This report details the case of an 11-year-old white male with a typical presentation of a unilateral iris and chorioretinal coloboma associated with multisystem disorders. The results of routine clinical and noninvasive neurophysiological tests are presented to demonstrate the anatomical and functional correlates of this striking and infrequently encountered ocular defect.

Child↗
PubMed1988

[Multiple ocular coloboma (MOC) with persistent pupillary membrane in the snow leopard (Panthera uncia)].

In a litter of three snow leopards, bilateral colobomata of the upper temporal eyelids, bilateral persistent pupillary membranes and a unilateral coloboma of the optic nerve entrance are described as "Multiple Ocular Colobomata" (MOC). The causal pathogenesis of each of the colobomata is discussed comparatively. The colobomata of the eyelids, essential feature of the MOC syndrome in snow leopards, are most probably not of hereditary, but rather of intrauterine infectious viral origin.

Animals↗
PubMed1981

Inheritance of microphthalmia with coloboma in the Australian shepherd dog.

Microphthalmia with coloboma behaves as an incompletely penetrant recessive trait in the merle Australian Shepherd dog. Microphthalmia and related anomalies occurred more often in merle dogs with predominate white than in merles with limited white hair coat. The study did not establish a genetic relationship between the amount of merling and microphthalmia. The inheritance of merling behaved as a dominant trait, but fewer non-merles occurred than were expected. Variations in white spotting were satisfactorily explained by several hypotheses involving 2 or 3 alleles at the S locus. Each requires some or all homozygous merles to be largely white and 1 or more of the S alleles to exhibit some extent of dominance over other alleles in the series.

Animals↗
PubMed1980

Congenital pits of the optic nerve head and retinochoroidal colobomas.

A 45-year-old man presented with bilateral retinochoroidal colobomas associated with an inferonasal congenital pit of the optic nerve head in each eye. Different theories on the origin of such pits are discussed. This case supports the theory that some congenital optic pits occur as a result of failure of closure of the superior end of the embryonic fissure.

Choroid↗
PubMed1997

A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.

We report on a 5-year-old boy with bilateral coloboma of iris, short stature, moderate developmental delay, and a few minor craniofacial anomalies. High-resolution GTG banding showed a small distal deletion of one chromosome 16 [del(16)(q23.1q24.2)]. Molecular refinement of the deletion breakpoints yielded that the proximal breakpoint at 16q23.1 is located between loci D16S395 (present) and D16S348 (absent). Comparison with previously published cases of deletion 16q demonstrated that the clinical phenotype is not a recognizable 16q- syndrome and different from the two cases of deletions of 16(q22.1 to q24.1) described by Callen et al. [1993]. Evidently, deletion 16(q23.1q24.2) has a milder phenotypic effect than other interstitial and distal 16q deletions.

Child, Preschool↗
PubMed1997

Congenital hypodontia of maxillary lateral incisors in association with coloboma of the iris and hypomaturation type of amelogenesis imperfecta in a large kindred.

The dental, clinical, genetic, radiological and dermatoglyphic findings in patients from a large kindred with congenital hypodontia of maxillary lateral incisors (CHMLI) in association with coloboma of the iris (Cl) and hypomaturation type of amelogenesis imperfecta (HTAI) are presented. The pedigree of the kindred showing multiple consanguinaeous marriages and the findings of the family members with CHMLI and a family member with CHMLI, Cl and HTAI and two members with both CHMLI and HTAI suggested that the isolated CHMLI was due to an autosomal recessive gene, but, the Cl was determined by an autosomal dominant gene linked to CHMLI gene. HTAI was an autosomal recessive character linked to both CHMLI and Cl.

Abnormalities, Multiple↗
PubMed1997

[Acute pancreatitis, papillary coloboma and serous macular detachment].

A serous macular detachment in one eye with spontaneous flattening is seen twice during acute pancreatitis in a man aged thirty-four years who has a pancreatic malformation and an optic disc coloboma of this eye. Fluorescein angiography discloses the classic sequence of an optic disc pit complicated by maculopathy. Vascular leakage attributed to acute pancreatitis is also seen in the macula. Every time, both retinal detachment and vascular leakage have disappeared in few days. The mechanism responsible for the development of the macular detachment in this case is discussed.

Acute Disease↗