Disease relevance of Microphthalmos

• Simple coloboma (no microcornea or microphthalmos) had the best prognosis (VA < 3/60: 6.7%; able to read N10: 93.3%; navigational vision: 100%) [1].
• These malformations included Coats disease, congenital cataract, congenital glaucoma, hypoplastic optic nerve head, idiopathic optic atrophy, coloboma with microphthalmos, and retinoblastoma [2].
• Isotretinoin is contraindicated in pregnancy because of the many reported congenital abnormalities after maternal use (including microphthalmos, orbital hypertelorism, and optic nerve hypoplasia) [3].
• The histopathologic diagnoses after enucleation included intraocular tumor in 22 patients, phthisis bulbi in eight patients, microphthalmos in three patients, Coats disease in two patients, and ruptured traumatic globe in one patient [4].
• The external signs include short palpebral fissures, telecanthus, epicanthus, blepharoptosis, microphthalmos and strabismus [5].

High impact information on Microphthalmos

• A review of published reports also suggests that simple, partial, posterior, pure microphthalmos and nanophthalmos are similar clinical entities sharing total axial length and vitreous cavity length reduction [6].
• Microcephaly, microphthalmos, and retinal folds: report of a family [7].
• METHODS: Records of patients with posterior microphthalmos over a 5-year-period were reviewed, including clinical, fundus photographic, fluorescein angiographic, and ultrasonographic findings, and management [8].
• X-linked cataract and X-linked microphthalmos: how many deletion families [9]?
• Ethanolamine oleate sclerotherapy in the management of orbito-palpebral cyst associated with congenital microphthalmos [10].

Chemical compound and disease context of Microphthalmos

• Colobomatous microphthalmos in a New Zealand white rabbit, arising from a colony with suspected vitamin E deficiency [11].
• Some drugs, for instance retinoic acid are regulators of Hox genes which control an ordered sequence of differentiation; coloboma or microphthalmos may appear if deregulation occurs [12].

Biological context of Microphthalmos

• While the combination of microcephaly, cleft lip and/or palate, microphthalmos, capillary haemangioma and polydactyly form the hallmark of trisomy 13, the presence of prominent occipit, micrognathia, clenched fist together with protruding heel make the appearance of trisomy 18 unmistakable [13].

Gene context of Microphthalmos

• Preoperative nystagmus, age at surgery, microphthalmos, and postoperative strabismus were not prognostically significant in visual outcome [14].
• INTRODUCTION: Congenital microphthalmos and anophthalmos are rare [15].
• Combined ocular anomalies were: microphthalmos (9x), myopia (4x), aniridia (2x), cataract (2x) [16].
• A 33-year-old man had Duane's retraction syndrome, microphthalmos, mixed hearing loss, short fingers and toes, and horseshoe kidneys on both sides and a right epibulbar lipodermoid [17].

References