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PubMed1997

Intraocular lens power calculation for microphthalmos.

PURPOSE: To evaluate the refractive results and accuracy of intraocular lens (IOL) power calculation formulas in eyes with microphthalmos. SETTING: Department of Ophthalmology, Showa University Hospital, Tokyo, Japan. METHODS: The accuracy of IOL power calculated using the SRK, SRK II, S-SRK, SRK/T, Holladay, and Hoffer Q formulas was evaluated in six eyes with axial lengths less than 19.0 mm. RESULTS: Postoperative measurement of refraction showed a tendency toward hypermetropia compared with the refraction predicted by each formula. The best predicted refraction was calculated using the SRK/T formula. The tendency for hyperopic estimation was related to the axial length, particularly in eyes with a shorter axial length. However, there was no relationship between the refractive power of the cornea and the error in the predicted refraction by the SRK/T formula. Two eyes with an IOL power of 30.0 diopters (D) had severe hypermetropia. CONCLUSION: Theoretical formulas were more accurate than empirical ones in eyes with microphthalmos. The severe hypermetropia in the two eyes with a 30.0 D IOL indicates that such patients require a higher IOL power.

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↗
PubMed2000

Good visual function in posterior microphthalmos.

Posterior microphthalmos is a rare condition in which the anterior segment is normal in size and configuration, but the posterior segment is reduced in size; this results in axial hyperopia and retinal folding. Patients have decreased vision that is caused by posterior segment abnormalities, high refractive error, and amblyopia. We present a case of posterior microphthalmos in which retinal function was relatively intact and visual loss was believed to be primarily caused by refractive error and amblyopia. After treatment, the child's visual acuity and school performance improved. This case emphasizes the need for careful examination, refraction, and follow-up for these children because their visual potential may be reasonably good.

Amblyopia↗
PubMed1994

Aetiology of severe visual impairment and blindness in microphthalmos.

Microphthalmos occupies a spectrum from a normal, but small globe, to a globe with multiple anterior and posterior segment abnormalities. This study examines 54 eyes of 27 patients who had bilateral microphthalmos and severe visual impairment or blindness. Congenital cataract was the commonest cause of severe visual impairment (44%), followed by presumed retinal or optic nerve dysplasia (30%) and chorioretinal coloboma (22%). Lensectomy was followed by phthisis bulbi in 3/23 cases and retinal detachment in 2/23 cases. There were no cases of angle closure glaucoma. The three clinical conditions associated with a poor prognosis were cataract, chorioretinal coloboma, and a markedly reduced corneal diameter. A corneal diameter of 6 mm or less was associated with a visual acuity of no perception of light in 81% (21/26) compared with 4% (1/28) of those with larger corneas.

Adolescent↗
PubMed1987

Microcephaly, microphthalmos, and retinal folds: report of a family.

A retarded boy with microcephaly, microphthalmos, and retinal folds is described. His mother and sister showed microphthalmos and the sister was also microcephalic. Another family showing similar findings has been described, indicating that this combination of abnormalities constitutes a discrete entity showing single gene inheritance.

Abnormalities, Multiple↗
PubMed1993

Classification of microphthalmos and coloboma.

A new classification of microphthalmos and coloboma is proposed to bring order to the complexity of clinical and aetiological heterogeneity of these conditions. A phenotypic classification is presented which may help the clinician to give a systematic description of the anomalies. The phenotype does not predict the aetiology but a systematic description of ocular and systemic anomalies improves syndrome identification. There are two major classes, total and partial microphthalmos, and a subclassification which follows the embryology of the anomalies. The aetiological classification consists of three classes: (1) genetic (monogenic and chromosomal), (2) prenatally acquired (teratological agents and intrauterine deformations), and (3) associations. Genetic disorders give rise to malformations; prenatally acquired anomalies are disruptions or deformations. The aetiological classification can be applied to other congenital birth defects and improves counselling of families. Recurrence risks vary considerably between the classes.

Coloboma↗
PubMed1984

Bilateral extreme microphthalmos.

A case of bilateral extreme microphthalmos is reported. Autopsy of a one-day-old full-term female revealed multiple congenital anomalies which included occipital encephalocele, cleft palate, hips which could not be abducted, long fingers and toes, and cardiovascular malformations. Chromosomal analysis showed a normal 46 XX karyotype. Ocular findings in this case included clinical anophthalmos with bilateral fused eyelids, optic nerve aplasia, absent cornea and lens, and retinal dysplasia. The distinctions between anophthalmos and varying degrees of microphthalmos are discussed. The insult causing abnormal development in this case appears to have occurred during the first trimester of pregnancy. There were no prenatal or delivery complications. A genetic abnormality was considered since two older siblings have birth defects. Also discussed is the possibility of a combined genetic and environmental etiology.

Abnormalities, Multiple↗
PubMedDate not supplied

Microphthalmos with cyst: clinical presentations and computed tomographic findings.

Four patients with microphthalmos with cyst were examined and evaluated by computed tomography (CT). Each patient had a different clinical presentation, which varied according to the appearance of the anterior segment and the size and location of the orbital cyst. All had very poor vision in the involved eye. CT was of great value in the diagnosis and definition of this condition. The differentiation of microphthalmos with cyst from coloboma and from other orbital masses by means of CT is discussed.

Child, Preschool↗
PubMed2000

Regional variation in blindness in children due to microphthalmos, anophthalmos and coloboma.

BACKGROUND: The prevalence and causes of blindness in children vary widely between regions. Few epidemiological data are available on the relative importance of the major congenital anomalies of the globe (i.e., microphthalmos, anophthalmos, coloboma) as causes of blindness in children. The aim of this study was to determine the re-gional variation in the proportion of severe visual impairment and blindness due to congenital abnormalities of the globe in children in schools for the blind and in those identified through Community Based Rehabilitation programs. Other objectives were to estimate the prevalence of blindness due to major congenital abnormalities, and to investigate their etiology. METHODS: Data on the causes of blindness in children were collected between 1990 and 1998 using standard methods, definitions and reporting form in 26 countries. Children were examined in schools for the blind and in Community Based Rehabilitation programs. RESULTS: Of 7,113 children aged 3-15 years with severe visual impairment and blindness examined, 762 (10.7%) had microphthalmos, 161 (2.3%) had anophthalmos, and 96 (1.3%) had coloboma. There are large regional differences in the proportion of severe visual loss in blind school children, ranging from 1.4% in Cuba to 33.2% in Sri Lanka. Severe visual loss due to congenital abnormalities of the globe is estimated to affect between 0.4 and 16.2/100,000 children in the countries studied. An underlying cause could not be identified in 84.2%. CONCLUSIONS: Major congenital abnormalities of the globe are important causes of severe visual loss in children, particularly in Asian countries. Further research into etiology is warranted in order to plan prevention programs.

Adolescent↗
PubMed2000

Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5).

A term Caucasian male infant, born to a healthy non-related couple, was noted at birth to have bilateral edema and bluish discoloration of the lower eyelids. On physical examination, the eye globes were not visualized and hypertelorism was noted. Radiological imaging revealed large bilateral orbital cysts, microphthalmos, and severe optic nerve hypoplasia. Histological study of the excised orbital masses showed cysts lined by primitive, immature retinal tissue which contained neuroglial elements and scattered dysplastic rosettes. Chromosome analysis revealed an apparent balanced reciprocal translocation between the long arm of chromosome 3 and 5, i.e. 46, XY, t (3; 5) (q27; q11.2). Chromosome studies in parents were normal. To our knowledge, the association of this balanced translocation and microphthalmos with cyst has not been previously described in the English literature.

Chromosomes, Human, Pair 3↗
PubMed2006

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.

PURPOSE: To describe the clinical and genetic characteristics of a new ophthalmic syndrome, which consists of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen, that segregates as an autosomal recessive trait in a family with four affected siblings. The membrane-type frizzled-related protein (MFRP) and CEH10 homeodomain-containing homolog (CHX10) genes, previously implicated in autosomal recessive forms of nanophthalmos/microphthalmos, were analyzed as candidate genes for this novel disease. METHODS: Complete ophthalmologic examinations were performed in four affected siblings and their parents. Ophthalmologic manifestations, fundus photographs, ultrasonographic (US) assessment, electroretinography (ERG), fluorescein retinal angiography (FA), Goldmann kinetic perimetry (GKP), and optical coherence tomography (OCT), as well as mutational status of MFRP and CHX10 genes in genomic DNA. RESULTS: In all affected siblings, ophthalmologic examination demonstrated normal horizontal corneal diameters and high hyperopia; funduscopy, ERG, and FA evidenced a progressive retinal dystrophy compatible with retinitis pigmentosa; A- and B-mode ultrasonography revealed decreased axial eye length and optic disc drusen; OCT showed localized macular retinoschisis. MFRP molecular analysis disclosed a one base pair insertion in exon 5 (c.498_499insC) in all affected individuals, a mutation that predicts a truncated protein (P165fsX198). Both parents were heterozygous for this mutation. CONCLUSIONS: A distinct autosomal recessive ophthalmic syndrome characterized by microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is described. We demonstrated that this clinical association is caused by a mutation in MFRP, a gene previously implicated in isolated nanophthalmos. Our data indicate that defects in MFRP could be responsible for syndromic forms of microphthalmos/retinal degeneration and that this gene is necessary for photoreceptor maintenance.

Adult↗
PubMedDate not supplied

[Rehabilitation of patients with unilateral congenital microphthalmos].

The purpose of the present study was to develop a surgical treatment for congenital microphthalmos, by using the biomaterial Alloplant that causes an increase in eyeball sizes. There were 48 cases of unilateral congenital microphthalmos prior to surgery. The patients' age ranged from 2 to 14 years; the duration of follow-ups was 1 to 6 years. Data processing by parametric variance analysis indicated that there was an increase in the mean sizes of the anteroposterior and transverse axes (APA and TA) of the eye 2-3 years following surgery. With the use of the authors' method, the conjunctival cavity is not deformed and, on the contrary, after surgery it acquires a regular slit-like shape with vaults of sufficient depth, which upgrades the quality of prosthetic repair in future. The increases in the sizes (APA and TA) and volume of the eyeball not only just after surgery, but also in the late periods (up to 2-3 years) suggest that the developed operation using the biomaterial Alloplant triggers the mechanism of coordinated eyeball growth.

Adolescent↗
PubMed1990

Bilateral macular holes in sporadic posterior microphthalmos.

The authors report an unusual sporadic case of bilateral posterior microphthalmos in an 8-year-old Chinese girl. Cycloplegic refraction showed hyperopia of 12.5 diopters in both eyes. Anterior segment examination showed normal corneal diameters, open angles, and normal lens thicknesses. Ultrasonography showed short vitreous compartments resulting in short axial lengths of 17.2 mm. Fundoscopy showed full-thickness macular holes associated with radiate retinal striae. This is the first report of bilateral macular hole formation in sporadic posterior microphthalmos. The literature is reviewed.

Child↗
PubMed1989

Posterior microphthalmos.

Posterior microphthalmos is a congenital anomaly of the posterior segment of the eye, caused by an abnormally thickened sclera. The thickened sclera does not impede the growth of the neuro-retina but seems to influence the development of the choroid and of the retinal pigment epithelium. This may explain the common occurrence of a papillomacular fold in such cases. As such eyes are at risk of developing uveal effusion or angle-closure glaucoma, it is important to consider the diagnosis of posterior microphthalmos in high hypermetropic eyes.

Adult↗
PubMed1985

Genetic and ultrasound study of hereditary pure microphthalmos.

Standardized A scan echography is the best technique for the biometric parameters of the eye. This has been very useful in studying the sizes of the anterior and posterior segments of the eye in hereditary microphthalmos. Echography and a genetic study led to a new classification of hereditary microphthalmos.

Aged↗
PubMed1982

Diagnostic precision in microphthalmos and coloboma of heterogeneous origin.

Heterogeneity of microphthalmos and coloboma is considerable and the clinical morphology is insufficient for etiological classification. A nosological classification has been performed in 86 cases of microphthalmos and coloboma occurring in mentally retarded individuals. Although nearly all were sporadic cases, a precise diagnosis could be established in 45 per cent of the cases. In 13 per cent, the phenotypes could not be assigned to any similar malformation syndrome described in the literature, and in 42 per cent the precision of the classification was low although the malformations had been repeatedly described before. An unknown number of the last-mentioned cases may have been environmentally induced, but little is known of environmentally induced ocular malformations and how to diagnose them after the first year of life.

Abnormalities, Multiple↗
PubMed1993

Microphthalmos with cyst: a clinical study.

Defects in closure of embryonic fissure and invagination of optic vesicle results in varied clinical presentation of microphthalmos with cyst. In our study, three patients had microphthalmos with cyst in one of their orbits. The cyst presented either as a swelling in the lower lid or as a sinus with purulent discharge associated with absent or small sized eyeball. The microphthalmic eye showed a spectrum of posterior segment abnormalities such as retinal disorganisation, gliosis, choroidal, and scleral coloboma. Microscopically, the cyst connected to the coloboma consisted of an outer layer of fibrovascular tissue and an inner gliotic neuroectodermal layer. The treatment consisted of excision of cyst alone or of microphthalmic eye with cyst. The use of conformers was mandatory after removal of cystic eyeball for near normal development of both orbits to maintain facial symmetry in our paediatric patients.

Adult↗