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PubMed1996

Macular coloboma-like lesions and pigment abnormalities as complications of cryotherapy for retinopathy of prematurity in very low birth-weight infants.

PURPOSE: Cryotherapy for retinopathy of prematurity (ROP) is effective in reducing the incidence of blindness in premature infants. However, macular complications associated with successful treatment have not yet been well studied. METHODS: Eighteen very low birth-weight (< 1,251 g) infants (32 eyes) who received cryotherapy for ROP were examined serially for regression of disease and for development of macular abnormalities. Patient characteristics and treatment factors were evaluated to identify risk factors associated with the development of macular abnormalities after successful cryotherapy. RESULTS: Eleven of 32 eyes (34.4%) that had undergone cryotherapy developed significant macular abnormalities, including macular coloboma-like change (six eyes), macular hyperpigmentation (two eyes), irregularly mottled macular hyperpigmentation and hypopigmentation (two eyes), and macular hyperpigmentation and hypopigmentation with subretinal proliferation (one eye). Corrected visual acuity in affected eyes ranged from 0.15 to 0.03 (20/133 to 20/666) compared with 1.0 to 0.2 (20/20 to 20/100) in treated eyes without macular abnormality (P = .0002). No difference in gestational age was noted between infants who did or did not develop macular coloboma-like lesions or pigment abnormalities. Eyes with macular abnormality had more posterior disease (P = .037) and received significantly more cryotherapy than did eyes without macular abnormality (P = .0005). CONCLUSIONS: In very low birth-weight infants receiving cryotherapy for ROP, development of macular coloboma-like lesions and macular pigment abnormalities were related to greater severity of ROP and a greater amount of cryotherapy. Macular abnormalities were associated with markedly worse visual outcomes than were treated eyes without macular abnormality.

Birth Weight↗
PubMed1991

The management of retinal detachments associated with choroidal colobomas by vitreous surgery.

We used vitreous surgery to treat seven patients (eight eyes) with complicated retinal detachments associated with choroidal colobomas. All eyes had large choroidal colobomas and no evidence of peripheral retinal breaks. Small, atrophic breaks were detected in five of the eyes and were located in the base of the coloboma in four of the five eyes. Adjunctive surgical techniques were necessary and included cyanoacrylate retinopexy in four eyes, silicone oil tamponade in five eyes, and retinectomy in two eyes. Retinal reattachment was ultimately attained in seven of the eight eyes. The number of surgical procedures ranged from one to five, with an average of three. Postoperative visual acuity of the eyes that underwent anatomically successful procedures ranged from 20/100 to light perception. Proliferative vitreoretinopathy was the most frequent cause of redetachment, occurring in six of the eight eyes.

Adult↗
PubMed1995

Coloboma of the optic disk associated with retinal vascular abnormalities.

PURPOSE: We studied a case of congenital optic disk pit and coloboma with associated malformations of the retinal vessels. METHODS: Slit-lamp biomicroscopy and fluorescein angiography were performed. RESULTS: Multiple retinal venous anastomoses associated with a congenital coloboma and pit of the optic disk were observed. The retinal vascular anomalies extended from the optic disk to the temporal periphery. CONCLUSIONS: We consider the coexistence of retinal venous anastomoses with optic disk coloboma and pit to be an extremely rare congenital retinal anomaly.

Abnormalities, Multiple↗
PubMed2003

Norepinephrine regulates locomotor hyperactivity in the mouse mutant coloboma.

An imbalance between dopaminergic and noradrenergic systems is implicated in hyperactivity disorders such as attention deficit hyperactivity disorder (ADHD) and Tourette syndrome. We have identified the mouse mutant coloboma as an animal model for examining the neurological basis of hyperactivity. Coloboma mice exhibit spontaneous locomotor hyperactivity that is a result of a reduction in SNAP-25, a presynaptic protein that regulates exocytotic release. These mice exhibit an imbalance in catecholamine regulation whereby brain dopamine (DA) utilization is reduced while norepinephrine (NE) concentrations are significantly increased. Further, calcium-dependent NE release was also increased in these hyperactive mice, despite the reduction in SNAP-25. To determine the role of NE in the expression of hyperactivity, brain NE concentrations were reduced using the specific noradrenergic neurotoxin DSP-4 [N-(2-chloroethyl)-N-ethyl-2-bromobenzylamine hydrochloride]. DSP-4 treatment specifically decreased NE concentrations, but had no effect on brain DA or serotonin. Depletion of NE by DSP-4 through either systemic or central administration significantly reduced the locomotor activity in coloboma mice. These results suggest that NE regulation in the CNS plays an important role in the expression of hyperactivity in this mouse model, consistent with results of human studies and current models of ADHD.

Animals↗
PubMed2000

Coloboma mouse mutant as an animal model of hyperkinesis and attention deficit hyperactivity disorder.

Hyperkinesis and developmental behavioral deficiencies are cardinal signs of attention-deficit hyperactivity disorder. In mice, the mutation coloboma (Cm) corresponds to a contiguous gene defect that results in phenotypic abnormalities including spontaneous hyperactivity, head-bobbing, and ocular dysmorphology. In addition, coloboma mutant mice exhibit delays in achieving complex neonatal motor abilities and deficits in hippocampal physiology, which may contribute to learning deficiencies. The hyperkinesis is ameliorated by low doses of the psychostimulant D-amphetamine and can be rescued genetically by a transgene encoding SNAP-25, located within the Cm deletion. Together with syntaxin and synaptobrevin/VAMP, SNAP-25 constitutes a core protein complex integral to synaptic vesicle fusion and neurotransmitter release. Despite the ubiquitous role of SNAP-25 in synaptic transmission, and uniformly decreased expression in the mutants, coloboma mice show marked deficits in Ca2+-dependent dopamine release selectively in dorsal but not ventral striatum. This suggests that haploinsufficiency of SNAP-25 reveals a specific vulnerability of the nigrostriatal pathway which regulates motor activity and may provide a model for impaired striatal input into executive functions encoded by the prefrontal cortex associated with ADHD.

Animals↗
PubMed2006

[Ocular coloboma associated with cervico-oculo-acoustic syndrome].

INTRODUCTION: Cervico-oculo-acoustic syndrome is an uncommon syndrome consisting of Klippel Feil syndrome, deafness, and Duane syndrome. We relate a new case of cervico-oculo-acoustic syndrome. CASE REPORT: We report the case of 15-month-old girl referred for esotropia of the right eye. Ocular examination revealed type 1 Stilling Duane syndrome in the right eye, in which we also noted microcornea, iris coloboma, and papillary and inferior chorioretinal coloboma sparing the macular area. The left eye was normal. The physical examination revealed Klippel Feil syndrome characterized by an extremely short neck with limited movement, a low posterior head line and fusion of the cervical vertebrae on radiography. The association of hearing loss (due to agenesis of the external ear) with Klippel Feil syndrome and Stilling Duane syndrome confirmed the diagnosis of cervico-oculo-acoustic syndrome. CONCLUSION: This case is unique because of the association of cervico-oculo-acoustic syndrome with ocular coloboma of the right eye. This association has not been reported previously in the literature.

Coloboma↗
PubMed2001

Encephalocraniocutaneous lipomatosis associated with iris coloboma, chorioretinitis and spinal cord involvement: a case report.

A 9-year-old boy with a history of lipoma excision and laminectomy at the Th10-11 levels, resulting in incomplete paraparesis and neurogenic bladder, was admitted for a comprehensive rehabilitation programme. Physical examination revealed an ipsilateral focal dermal hypoplastic defect within an area of alopecia and a subcutaneous lipomatous tissue on the left temporo-parietal region of the scalp. Iris coloboma and chorioretinitis were diagnosed on the left eye. He also had mild mental retardation and triparesis. Magnetic resonance imaging of the brain and the spine demonstrated hyperintense masses which were consistent with lipoma. Although in the literature three cases of encephalocraniocutaneous lipomatosis (ECCL) concomitant with spinal cord involvement have been reported, to our knowledge iris coloboma and chorioretinitis in ECCL have not been reported previously. In conclusion, we would like to stress that aside from known ophthalmological malformations, iris coloboma and chorioretinitis may also be observed in ECCL and that all patients who have been diagnosed as having ECCL should be examined for spinal cord involvement.

Brain↗
PubMed2004

Capsular tension ring use in a patient with congenital coloboma of the lens.

Cataract surgery was performed in a 63-year-old man with bilateral coloboma of the lens. There was no traumatic history, but the patient had lower zonule deficiency and zonular weakness in both eyes, leading us to suspect congenital coloboma of the lens. In the first eye having cataract surgery, it was impossible to rotate the cataractous lens and place the intraocular lens (IOL) centrally in the capsular bag because the lens capsule was not round. The second eye had similar problems, and capsular tension ring implantation improved cataract lens rotation and phacodonesis, enabling central IOL implantation in the capsular bag. The visual acuity recovered to 20/20 in both eyes. Capsular tension ring implantation can facilitate cataract surgery in coloboma of the lens, even in long-term and continuous lens capsule deformity.

Capsulorhexis↗
PubMed2000

Optic nerve coloboma with retinal degeneration associated with cystic microphthalmia of the other eye.

In a seventy-five-year old man an optic nerve coloboma with generalised retinal degeneration associated with a cystic microphthalmia of the other eye is described. The MR imaging revealed the existence of a left microphthalmic eye with a lower lid cyst. From the other eye an optic nerve coloboma with a cystic ectasia of the coloboma area freely open to the vitreous cavity was apparent. The ERG recorded from this eye was extinguished.

Aged↗
PubMed2000

Requirements for optical services in children with microphthalmos, coloboma and microcornea in southern India.

PURPOSE: The aim of the study was (1) to determine the need for spectacles in children in Southern India with coloboma, microphthalmos and microcornea, (2) to describe their refractive errors and (3) to assess their needs for low vision aids (LVAs). METHODS: Children with congenital eye anomalies were recruited from special education for the blind, schools for the mentally handicapped, community-based rehabilitation programmes and hospital records in Andhra Pradesh, India. All those with at least light perception vision (PL) in one eye and who had navigational vision were refracted. Those whose distance vision in their better eye improved with refraction were prescribed spectacles. Those unable to read N10 were assessed for LVAs for near. Those with distance visual acuity of < 6/18 in the better eye were assessed for telescopes to aid distance vision. RESULTS: Ninety-nine children with coloboma, microcornea or microphthalmos had functional vision. Eight unilateral cases were excluded. Ninety-one bilateral cases were refracted and assessed for LVAs. The vision in 52 children (57%) improved in the better-seeing eye by 1 or more lines of Snellen acuity with spectacles. Spectacles were prescribed most frequently for myopia associated with choroidal coloboma. After refraction, all 19 children with a visual acuity of 6/18 or better could read N10, and 43 of the 72 children (60%) with a visual acuity of < 6/18 to PL with functional vision could read N10 unaided, or with distance correction. A further 6 (8%) reached this level with magnifiers. Thirteen children (18%) were given telescopes. CONCLUSION: Children with congenital anomalies of the eye and functional vision benefit from refraction and low vision services.

Adolescent↗
PubMed2004

Macular coloboma in siblings affected by different phenotypes of retinitis pigmentosa.

Purpose To report the clinical association between macular coloboma (early-onset macular dystrophies/atrophic changes) and different phenotypes of retinitis pigmentosa (RP). Methods Three young-adult siblings, two males and one female, were retrospectively studied. These patients underwent two complete ophthalmologic examinations (27-month follow-up), including orthoptic evaluation, colour vision test, visual field, corneal topography, electronystagmography, fluorescein angiography, and electroretinography. Eye check, automated visual field test, and complete electroretinographic study were also conducted on other asymptomatic members of the same family. Results All symptomatic siblings were affected by manifest congenital nystagmus, poor visual acuity, and progressive visual field impairment in both eyes, bilaterally presenting macular coloboma associated with three different RP patterns: classic RP; mild dystrophy of the retinal pigment epithelium, associated with subnormal electroretinographic findings (subclinical form of RP); and sector RP. The ophthalmologic reports regarding their deceased father documented that he had suffered from the same alterations of ocular movements and visual performances diagnosing, in both eyes, extensive atrophic changes of the macular area completely surrounded by pigmented bone spicules (RP-type tapeto-retinal dystrophy). The other investigated relatives did not show any specific and/or significant ocular disorder. Conclusions In these three adult members of the same family, the concomitance between macular coloboma and different intrafamilial RP phenotypes is described. This association represents an autosomal dominant clinical entity, hitherto observed only in non familial sporadic cases.Eye (2004) 18, 421-428. doi:10.1038/sj.eye.6700689

Adult↗
PubMed1997

[Lens coloboma and lens dislocation in Stickler (Marshall) syndrome].

BACKGROUND: Both, Stickler and Marshall syndrome are dominantly inherited, connective tissue disorders with highly variable individual manifestations. Probably, both syndromes represent the same entity with occasional partially different clinical manifestations. PATIENT: We are reporting on a female patient with typical ocular and systemic manifestations of both syndromes: high myopia, glaucoma and goniodysgenesis, submucosal cleft palate, sensorineural hearing loss, and "flat" mid-face. Additionally, we observed subluxation of the ocular lens in one eye which was previously described in only a few cases. In our case, subluxation was combined with nasal coloboma of the lens and congenital cataract. This represents the first report of coloboma of the ocular lens as a manifestation of Stickler (Marshall) syndrome. In both children of the patient manifestations of the syndrome were present (high myopia, cleft palate, sensorineural hearing loss). CONCLUSION: Coloboma and subluxation of the lens have to be regarded as possible manifestations of the Stickler (Marshall) syndrome. The syndrome(s) should be included in the differential diagnosis of ectopia lentis-associated systemic diseases.

Abnormalities, Multiple↗
PubMed1998

Coloboma of the lens, optic nerve hypoplasia, and orbital hemangioma--a possible developmental field defect.

PURPOSE: To report the unusual association of a coloboma of the lens with ipsilateral optic nerve hypoplasia and orbital hemangioma. METHODS: Descriptive case report. RESULTS: An eight-month-old girl had a gradually enlarging left orbital hemangioma. There was an ipsilateral temporal coloboma of the lens with a remnant of the pupillary membrane attached to the anterior lens capsule in the central region of the coloboma. The left optic nerve head was one half the size of the right one. CONCLUSION: The occurrence of intraocular malformations with an ipsilateral orbital vascular malformation may be the result of a developmental ocular and periocular field defect.

Abnormalities, Multiple↗
PubMed2003

Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.

Renal-coloboma syndrome, an autosomal dominant disorder associated with mutations in PAX2, is characterized by colobomatous eye defects, renal hypoplasia, vesicoureteral reflux, high-frequency hearing loss, and rarely central nervous system abnormalities. We identified a three-generation family with optic nerve colobomatous dysplasia and renal disease. We report the identification of a novel mutation in PAX2 in this family with renal-coloboma syndrome, Arg115X. We also report on the ocular and extraocular manifestations of PAX2 mutations for all cases of renal-coloboma syndrome reported to date.

Abnormalities, Multiple↗
PubMed1992

Surgical treatment of retinal detachment in the choroidal colobomas.

Seven eyes from seven patients with retinal detachment and choroidal coloboma (with or without optic disc involvement) were treated. The retinal break was always inside the colobomatous area, except in the cases with evidence of peripheral retinal breaks. In order to produce reattachment of the retina, vitrectomy procedures with removal of posterior hyaloid were used. Drainage of subretinal fluid was performed through the break in the area of the coloboma, with simultaneous fluid-air exchange. Previously undetected retinal breaks were identified by inspecting for the presence of schlieren in the colobomatous area during fluid-air exchange. A peripheral scleral buckle was then applied. Argon laser endophotocoagulation was performed, but when the coloboma involved the optic disc, red krypton endophotocoagulation was used. Retinal reattachment was achieved in all cases.

Adult↗
PubMed1986

Congenital upper lid coloboma.

Twenty-two patients with congenital upper lid colobomas were assessed. Strabismus occurred in 13 cases and was associated with bands of fibrous tissue or adhesions, high refractive errors and opacities in the ocular media. A traction test is strongly recommended early in all children with congenital upper lid colobomas. A lateral cantholysis and direct closure was the commonest type of surgery, but unless the coloboma closed easily a lower lid rotation flap gave the best results.

Adolescent↗
PubMedDate not supplied

Vascular changes associated with chorioretinal and optic nerve colobomas in rats (Crj: CD(SD), IGS).

OBJECTIVE: Three female adult rats (Crj: CD(SD) IGS) with colobomatous anomalies were investigated. MATERIALS AND METHODS: The microvascular changes of the coloboma were studied using the techniques of fluorescein angiography, histology and scanning electron microscopy (SEM) of vascular corrosion casts. RESULTS: Fluorescein angiography revealed the pits of the optic disk as a dark hole with some abnormalities in vessel arrangement. Light microscopy confirmed the presence of attenuated lamina cribrosa, retinal dysplasia and marked dilation of the retinal veins. SEM revealed that the optic disk coloboma formed a crater-like pit and that central retinal vessels ran a tortuous course along the bottom and side of the crater. Capillaries in the optic nerve head were missing in the affected area. The central retinal veins were thick and had various changes such as strangulation, rough surface structures, mural voids and evaginations, which represent loss of integrity of the vascular wall. CONCLUSIONS: These vascular changes that are associated with colobomatous anomalies may impede the retinal circulation and be responsible for the fluctuating fluorescein pattern during fluorangiogram of affected animals. The lesions of the vascular wall may increase the subretinal fluid due to the leakage of fluid, thus causing the maculopathy or serous retinopathy, which is frequently associated with posterior pole coloboma.

Animals↗
PubMed1996

Simple iris coloboma in a Greek family.

We report the presence of simple iris coloboma in 4 out of 5 female members comprising four generations of a Greek family. A varied degree of simple iris coloboma (i.e. not associated with a choroidal coloboma) was present in one eye of the maternal grandmother, mother, daughter and one out of 2 granddaughters of this family. The iris colobomata were associated with congenital lens opacities in 2 out of 4 of the females, macular degenerative changes in 2 cases and ocular hypertension in one case. The pathogenesis, heredity and associations of simple iris colobomata is discussed.

Adolescent↗