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PubMed1981

Genetics of microphthalmos.

This is a survey of the genetics of microphthalmos and the heritable syndromes in which microphthalmos occurs. New syndromes are delineated such as the autosomal dominant anophthalmos-microphthalmos-coloboma syndrome, the autosomal dominant microphthalmos, microcephaly, lacunar retinal atrophy syndrome, the autosomal recessive anophthalmos-microphthalmos-coloboma syndrome, the autosomal recessive syndrome with anophthalmos or microphthalmos and genital malformations, and the autosomal recessive syndrome with microphthalmos, microcephaly and retinal falciform folds. Nanophthalmos is described as a poorly defined phenotype and rejected as a genotype. Several other genetic entities with microphthalmos are reviewed and recent descriptions are surveyed.

Adolescent↗
PubMed1999

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).

Primary anophthalmos is a heterogeneous condition. In its nonsyndromal form, it is usually considered an autosomal recessive trait. However, other causes such as chromosomal abnormalities and prenatal insults need to be considered. We report on a unique reciprocal translocation 46,XX,t(3;11)(q27;p11.2) in a baby with isolated anophthalmos. Both Chitayat et al. [1996] and Alvarez Arratia et al. [1984] have reported on cases of terminal deletion of the long arm of chromosome 3. In each case the child had multiple anomalies including microphthalmia or anophthalmia. Because our patient appears to have no other anomalies, this break point may indicate that a genetic locus for eye formation exists at chromosome site 3q27. Published 1999 Wiley-Liss, Inc.

Anophthalmos↗
PubMed1986

Conjunctiva-Müller's muscle excision to correct anophthalmic ptosis.

We treated 35 eyelids with ptosis and anophthalmos by resecting conjunctiva and Müller's muscle. Before surgical intervention all patients were evaluated by an experienced ocularist who, if necessary, modified or refit the prosthesis. All eyelids had a positive response to 10% phenylephrine hydrochloride. Preoperatively, the margin reflex distance-one (MRD-1) of the ptotic eyelids ranged from -2.0 to +3.5 mm. The amount of conjunctiva-Müller's muscle excision ranged from 7.25 to 9.25 mm. Following surgery, the average change in MRD-1 was 3.33 mm. Thirty-one eyelids (88.6%) achieved a post-operative level within 1 mm of the opposite eyelid. There were two overcorrections and two undercorrections. Postoperatively, no patients had any compromise of the superior fornix, socket dryness, or inability to retain their prosthesis. Resection of conjunctiva and Müller's muscle is a simple and effective method to treat ptosis associated with anophthalmos.

Adolescent↗
PubMed1997

Difficulties with hydroxyapatite orbital implants in two patients with dysfunctional levator/superior rectus muscle complex.

Hydroxyapatite orbital implants are recognized for their excellent results in anophthalmos. Few complications are reported in the literature. We implanted hydroxyapatite spheres in two patients with acquired anophthalmos and denervated or nonfunctional levator palpebrae superioris and superior rectus muscles. In both patients, the implant rotated anteriorly, obliterating the superior fornix and causing proptosis. Prosthetic fitting was impeded, necessitating surgical revision in both patients. A hydroxyapatite implant may rotate and migrate anteriorly in the presence of a nonfunctional superior rectus muscle, distorting the conjunctival fornices and causing proptosis. This complication calls into question whether muscle-attached orbital implants should be used in patients with significant rectus muscle weakness.

Adolescent↗
PubMed2001

Conjunctival cul-de-sac reconstruction with radial forearm free flap in anophthalmic orbit syndrome.

Contracted eye socket is a constant cosmetic embarrassment to the patient. It not only renders patients unable to maintain an eye prosthesis, but it becomes a source of chronic discharge and irritation. Eye socket reconstruction with free skin, mucous membrane, cartilage, or dermis-fat usually remains unsatisfactory in many cases, due to secondary graft contracture. Traumatic injuries to the orbit and neighboring soft tissue frequently lead to a contracted eye socket. This condition results from the need for removal of the traumatized conjunctiva at the time of the enucleation, along with the traumatized eyeball, for satisfactory wound closure. In traumatic anophthalmos patients, a radial forearm free flap was used for conjunctival cul-de-sac reconstruction. Eye socket beds were developed as hinge-shaped flaps and used as lining for the upper and lower palpebrae. The authors conclude that the radial forearm flap is a useful alternative in the treatment of traumatic anophthalmos.

Adult↗
PubMed2004

Heritable unilateral clinical anophthalmia.

We examined a newborn child with unilateral right-sided clinical anophthalmos born to a mother with unilateral left-sided anophthalmos. Although rare, isolated nonsyndromic heritable unilateral anophthalmia and microphthalmia have been reported in the literature. We briefly review the genetics of such anomalies and discuss the importance of a full clinical genetics evaluation. Treatment of this patient's anophthalmic socket consists of progressive conformer expansion to be followed by placement of a self-inflating polymer expander.

Adult↗
PubMed2006

Injectable self inflating hydrogel pellet expanders for the treatment of orbital volume deficiency in congenital microphthalmos: preliminary results with a new therapeutic approach.

BACKGROUND/AIM: Children with congenital microphthalmos are usually able to wear an eye prosthesis but the cosmetic aspect is determined by the size of the orbital volume deficiency. Instead of using a ball shaped standard hydrogel expander or a regular orbital implant, which would necessitate enucleation of the microphthalmic eye, this study investigates the feasibility of volume augmentation with injectable pellet expanders, as formerly suggested for acquired anophthalmos in adults only. METHOD: The pellet expander is made from a self inflating hydrogel that takes up water by osmosis (dry state: length 8 mm, diameter 2 mm, volume 0.025 ml; in vitro hydrated state after around 1 day: length 15 mm, diameter 4 mm, volume 0.24 ml; swelling capacity: 9.6-fold). This report concerns six patients (two girls and four boys) aged between 4 months and 42 months with unilateral microphthalmos who were treated by injection of 4-14 pellet expanders into the retrobulbar orbital tissue. Volume augmentation was 1-3.5 ml. The pellets were injected using a customised trocar and placed behind the microphthalmos directed into the intraconal space. RESULTS: The increasing orbital volume was noticeable within 2 days and was confirmed by ultrasonography and magnetic resonance imaging. The final result can be anticipated by the volume augmentation effect produced by the amount of saline solution injected in the orbital apex region. All patients were fitted with an artificial eye, which was subsequently enlarged every 3-5 months. Anophthalmic enophthalmos was fully compensated with this technique. No complications have been encountered to date. CONCLUSIONS: Orbital volume augmentation with injectable self inflating hydrogel expander pellets is apparently a safe, quick, and minimally invasive technique for various indications in orbital reconstructive surgery-for example, to treat an enophthalmic appearance in microphthalmos and congenital or acquired anophthalmos.

Child, Preschool↗
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↗
PubMed2002

Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

Nonsyndromic congenital microphthalmia or anophthalmia is a heterogeneous malformation with autosomal dominant, autosomal recessive, and X-linked modes of inheritance. Lenz microphthalmia syndrome comprises microphthalmia with mental retardation, malformed ears, skeletal anomalies, and is inherited in an X-linked recessive pattern. Prior studies have shown linkage of both isolated (or nonsyndromic) anophthalmos (ANOP1, [MIM 301590]) and Lenz syndrome [MIM 309800] to Xq27-q28. Nonsyndromic colobomatous microphthalmia [MIM 300345] has been linked to Xp11.4-Xq11.1. We describe a five-generation African-American family with microphthalmia or anophthalmia, mental retardation, and urogenital anomalies, in an X-linked recessive inheritance pattern, consistent with Lenz syndrome. Initial linkage analysis with microsatellite markers excluded the region in Xq27-q28 previously reported as a candidate region for ANOP1 [MIM 301590]. An X-chromosome scan revealed linkage to a 10-cM region between markers DXS228 and DXS992 in Xp11.4-p21.2. Multipoint analysis gave a maximum LOD score of 2.46 at marker DXS993. These data show that X-linked recessive syndromic microphthalmia exhibits genetic heterogeneity. In addition, it suggests that Lenz microphthalmia syndrome, previously thought to be a single disorder, may represent an amalgam of two distinct disorders.

Abnormalities, Multiple↗
PubMed1990

MR of uncommon congenital and vascular lesions of the intracranial visual pathways.

The MR findings of two patients with rare congenital abnormalities of the optic pathways are reported and illustrated, including one case of unilateral aplasia of the optic chiasm, tract, and visual radiations and another patient with anophthalmos. In three other patients with unusual vascular causes of visual disturbance, MR was important in early establishment of an accurate diagnosis and had consequent implications for decisions regarding further patient management.

Adult↗
PubMed2000

Diencephalic neuronal hamartoma associated with congenital obstructive hydrocephalus, anophthalmia, cleft lip and palate and severe mental retardation: a possible new syndrome.

A male infant was born with severe hydrocephalus, bilateral cleft lip/palate, left anophthalmos and right microphthalmos, and an equino-varus foot deformity. Imaging studies showed enlarged lateral ventricles, apparent absence of the corpus callosum and a midline density in the third ventricular region. He had a normal male karyotype. He was severely mentally retarded and died suddenly at 7 years of age. Neuropathological examination of the brain revealed enlarged and polygyric cerebral hemispheres, due to congenital obstructive hydrocephalus, and secondary thinning of the corpus callosum. An unusually large neuronal hamartoma filled the interpeduncular fossa and third ventricle. It was continuous posteriorly with the left thalamus and so was classified as diencephalic rather than as hypothalamic. The right optic nerve merged with the hamartoma, whereas the left nerve was absent. Microscopically the hamartoma consisted of mature grey matter interspersed with narrow bands of white matter. No immature or non-neural elements were identified. This combination of diencephalic neuronal hamartoma, hydrocephalus, ocular and craniofacial abnormalities has not, to our knowledge, previously been described.

Anophthalmos↗