[Clinical and anatomical features of congenital microphthalmia and anophthalmia in children and conservative methods of rehabilitation]. / Kliniko-anatomicheskie osobennosti vrozhdennogo mikroftal'ma i anoftal'ma u detei i konservativnye metody reabilitatsii.

AIM: To develop a comprehensive classification system of distinctive clinical and anatomical features of congenital microphthalmia and anophthalmia in children and to specify indications, contraindications, and optimal timing of the primary and subsequent prosthetic treatment. MATERIAL AND METHODS: A total of 70 patients with congenital micro- or anophthalmia aged from 1 month to 12 years were examined. Besides the routine ophthalmic examination, all patients underwent eye and orbit ultrasound (axial length measurement and B-scan), computed tomography of the orbits and skull, and immunological tests for infectious diseases (enzyme-linked immunosorbent assays). RESULTS: Basing on the examination RESULTS: we have determined the common types of congenital micro- and anophthalmia in children. We have also developed a stepwise prosthetic treatment aimed at better cosmetic rehabilitation. Indications and contraindications for the use of ocular prostheses in children with congenital micro- and anophthalmia have been identified. CONCLUSION: The proposed method of stepwise prosthetics is the principal option for conservative rehabilitation of children with congenital micro- or anophthalmia.

[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.

Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum.

A newborn male patient presented with complete cutaneous syndactyly of fingers 3-5 in the left hand and fingers 4-5 in the right hand. The mother and maternal grandmother were born with the same hand malformation. Facial features in the mother showed a thin nose and small teeth; eyes were normal. In the grandmother, teeth had been very small with enamel hypoplasia; eyes were normal. The present family provides evidence of the variable expression in oculodentodigital dysplasia. Inheritance is autosomal dominant.

[Microphthalmos and its pathogenic classification].

Congenital microphthalmos is a common malformation encountered clinically. Microphthalmos in adults is here defined as eyes whose axial length is below 20.4 mm in males and 20.1 mm in females; in under 14-year-old children, it is eyes at least 3 square root of 2/3 below the mean for age-similar controls. Experimental animals with hereditary microphthalmos have been widely investigated, and many environmental factors given to pregnant animals frequently induce microphthalmos. In both clinical and experimental microphthalmos, there are conspicuous variations in size, and various kinds of ocular and systemic complications. Recently, fetal alcohol syndrome produced by alcohol intake during pregnancy has been reported. In this syndrome, microphthalmos is one of the important symptoms. Experimentally, microphthalmos also developed at a high incidence among mouse fetuses whose mothers were given ethanol during pregnancy. The present investigator established a preliminary etiological classification of microphthalmos in 1984. In this paper summing up newly obtained results, the relationship to neural crest cells and histochemical changes of glycosaminoglycan molecular species, the author presents a final pathogenic classification of microphthalmos, which consists of developmental disturbance of the optic vesicle, malformation of the optic cup, mesenchymal dysgenesis of the anterior ocular segment, maldevelopment of the lens, maldevelopment of the vitreous, faulty closure of the embryonic fissure and developmental disturbance of the wall of eyeball.

Evanescent white linear flecks and posterior microphthalmos: new features of a recently established disease.

BACKGROUND: Posterior microphthalmos is a rare autosomal recessive condition with normal anterior segment and small posterior segment resulting in axial hyperopia and retinal folding. HISTORY AND SIGNS: The proband from a consanguineous Turkish family was clinically investigated at 5 months of age and followed for the next 8 years. At five months of age, refraction revealed a severe hyperopia of + 10 diopters in both eyes (OU) with a mean axial length of 16.5 mm. Fundus examination showed a dystrophic maculo-papillar bundle. Multiple whitish deep intraretinal linear lesions sparing the macula were present in the mid-periphery with no preferential orientation. THERAPY AND OUTCOME: By 8 years of age, visual acuity was 20/25 in the right eye (OD) and 20/30 in the left eye (OS) with S + 14 OU. The whitish linear lesions had disappeared and were replaced by retinal pigment epithelium alterations. Optical coherence tomography (OCT) revealed a thickened retina with normal appearance at the site of the linear lesions. CONCLUSIONS: This is the first report of long-term follow-up and OCT findings in this rare ocular developmental abnormality.

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.

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.

[Cataract surgery in 79 patients with relative anterior microphthalmus (RAM): a review of anatomy, associated pathology and complications]. / Besonderheiten der Kataraktchirurgie bei 79 Patienten mit relativem anterioren Mikrophthalmus (RAM): Eine Ubersicht zur Anatomie, assoziierten Pathologie und Komplikationen.

BACKGROUND: Naumann has coined the term relative anterior microphthalmus (RAM) for eyes with a dysproportional small anterior segment but no further malformation. Those eyes are characterized by corneal diameters of < 11 mm and total axial length of > 20 mm. PATIENTS AND METHODS: To evaluate and define morphometrical data and risk factors for cataract surgery in patients with relative anterior microphthalmus (RAM) 112 cataract operations of 79 patients with RAM were analysed. Associated ocular pathology (such as glaucoma, previous surgical interventions, etc.) and complications of cataract surgery were recorded. RESULTS: Average corneal diameter was 10.7 +/- 0.34 mm, AC-depth was 2.20 +/- 0.49 and average lens thickness 5.05 +/- 0.45 mm. Fifty five percent of the patient revealed myopic refraction. There was a high incidence of glaucoma (77%), cornea guttata (46.6%) and Pseudoexfoliation syndrome (16%) in the RAM-group. Sixty percent of patients previously underwent glaucoma surgery. After cataract surgery 51.2% of patients achieved a visual acuity of > 0.5; 69.8% > 0.4. The IOP was preoperatively 16.5 +/- 5.8 mm Hg (with 1.3 +/- 1.4 antiglaucomatous drugs). Postoperatively IOP dropped significantly to 13.6 +/- 3.2 mm Hg (with significant reduction of treatment (0.6 +/- 1.0) (p < 0.01). The anterior chamber depth deepened from 2.42 +/- 0.47 mm to 3.33 +/- 0.72 mm. CONCLUSIONS: The special anatomical situation in RAM is responsible for the high incidence of glaucoma and postoperative complications after cataract surgery. Cataract surgery helps not only to restore vision but also facilitates handling and regulation of intraocular pressure.

Microftalmos / Microophthalmos

Tras una revisión sobre el concepto del microftalmos y diferentes clasificaciones realizadas por los autores, se presentan las características genéticas de esta enfermedad así como las alteraciones embriogénicas que dan lugar a la misma. Se señala también la relación existente entre microftalmos y anoftalmos y/o microcórnea según algunos autores. Por último se presenta un pequeño resumen de algunas historias clìnicas de los niños de la escuela Abel Santamaría que presentan microftalmos