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Microphthalmos

MAC


Presentation

  • Complete ophthalmologic examination of three of five siblings presenting with bilateral posterior microphthalmos and papillomacular fold. Optical coherence tomography (OCT) data are presented to confirm the abnormal anatomy.[ncbi.nlm.nih.gov]
Turkish
  • The proband from a consanguineous Turkish family was clinically investigated at 5 months of age and followed for the next 8 years.[ncbi.nlm.nih.gov]
Tachycardia
  • […] corpus callosum Anencephaly Microcephaly Hydrocephalus Developmental delay / intellectual disability Infantile seizures Cardiac concerns Cardiomyopathy (hypertrophic or oncocytic) Atrial and ventricular septal defects Arrhythmias such as supraventricular tachycardia[ncbi.nlm.nih.gov]
Chemosis
  • A 6-month-old girl came to the hospital with swelling of the right lower eyelid, exophthalmos, chemosis and upward deviation of the eyeball--all of which had been present since birth. Iris, optic disc, and chorioretinal coloboma were also apparent.[ncbi.nlm.nih.gov]
Chest Deformity
  • Chromosomal Abnormality Other Features Duplication 3q syndrome (3q21-ter dup) Learning difficulties, growth deficiency, hypertrichosis, craniosynostosis, cardiac defects, chest deformities, genital abnormalities, umbilical hernia 4p- (Wolf-Hirschhorn[ncbi.nlm.nih.gov]
Cranial Asymmetry
  • asymmetry, learning difficulties, epilepsy, cleft lip/palate, anterior segment dysgenesis Duplication 4p syndrome Learning difficulties, epilepsy, growth deficiency, obesity, microcephaly, characteristic faces, genital abnormalities, kyphoscoliosis Deletion[ncbi.nlm.nih.gov]
Hearing Impairment
  • Eleven individuals have extra ocular findings (i.e. cardiac defects, autism, septo-optic dysplasia, and hearing impairment), which indicate a syndromic condition.[iovs.arvojournals.org]
  • Hearing impairment may be present in some cases. The teeth may be widely spaced or abnormally crowded. In addition, front teeth (incisors) may be absent (agenesis) or malformed.[rarediseases.org]
  • ., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations.[ncbi.nlm.nih.gov]
Prominent Occiput
  • occiput, low-set malformed auricles, micrognathia, cardiac defects Triploidy syndrome Large placenta with hydatidiform changes, growth deficiency, syndactyly, congenital heart defects, brain anomalies/holoprosencephaly Table 2 Ocular phenotypes associated[ncbi.nlm.nih.gov]

Workup

Treponema Pallidum
  • Many infectious agents have been previously associated with these pathologies, but rarely Treponema pallidum. We report a case of bilateral microphthalmos in which her mother presented gestational syphilis.[ncbi.nlm.nih.gov]
  • During the pregnancy, routine serological testing determined that she had sickle cell disease (type AS, S 79%), a rubella titer of 13 IU/mL, a toxoplasmosis IgG titer of 14 IU/mL, and that she was syphilis (Treponema pallidum haemagglutination [TPHA],[dovepress.com]

Treatment

  • One treatment of clinical anophthalmos was interrupted on the parents' request (slow and bad evolution with complete retraction of the orbital socket after a conjunctivitis).[ncbi.nlm.nih.gov]
  • Removal of the tissue may be required before treatment can begin and a prosthesis can be fitted. Treatments for both conditions require stretching the socket. This can be accomplished with an orbital conformer or inflatable conformer.[babymed.com]

Prognosis

  • Microphthalmos with cyst had the worst prognosis, coloboma with microcornea and microphthalmos a poor prognosis, coloboma with only microcornea had an intermediate prognosis, and simple coloboma had the best prognosis.[aao.org]
  • Prognosis The potential for visual development in microphthalmic patients is dependent upon retinal development and other ocular characteristics. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Very poor prognosis if associated with primary aphakia, retinal dysplasia, congenital retinal detachment/non attachment. • Risk for retinal detachment if coloboma may be in excess of 2% • Risk for glaucoma depends on associated ocular anomalies COMPLICATIONS[entokey.com]
  • The prenatal diagnosis, that is now available, permits the early diagnosis of these diseases and the awareness to other malformations or signs that may preview the prognosis, which must be carefully explained to parents.[elsevier.es]
  • Prognosis For anophthalmia, prosthetic eyes should be seen by a specialist two to three times per year to assess fit, mobility, and smoothness. They are usually well tolerated and have good appearance and mobility.[encyclopedia.com]

Etiology

  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • Heritable etiologies and the other etiologies could not be compared due to the small number of the sample.[scielo.br]
  • Also discussed is the possibility of a combined genetic and environmental etiology.[ncbi.nlm.nih.gov]
  • Microphthalmia can have a complex etiology and genetics.[radiopaedia.org]
  • Cases without a known genetic or syndromic etiology were primarily investigated to determine phenotypic and inheritance patterns.[jamanetwork.com]

Epidemiology

  • Raph Goldacre 3, Nick Hall 3, Michael J Goldacre 3 1 Department of Oculoplastics, Lacrimal and Orbital surgery, Manchester Royal Eye Hospital, Manchester, UK 2 Department of Adnexal surgery, Moorfields Eye Hospital, London, UK 3 Unit of Health-Care Epidemiology[doi.org]
  • ORIGINAL ARTICLE Epidemiology of anophthalmia and microphthalmia: Prevalence and patterns in Texas, 1999–2009 Philip J.[onlinelibrary.wiley.com]
  • The descriptive epidemiology of anophthalmia and microphthalmia. Int J Epidemiol. 1996;25:1009–1016. 8.0 8.1 Forrester MB, Merz RD. Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986–2001.[eyewiki.aao.org]
Sex distribution
Age distribution

Pathophysiology

  • Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any[books.google.de]
  • Genetic counseling and/or prenatal testing (if mutated gene known or syndrome recognized in family) • Avoidance of in utero exposures if known risk for infection or teratogen • Can be detected by prenatal ultrasound at 12–13 weeks ( 3 )[C], ( 4 )[C] PATHOPHYSIOLOGY[entokey.com]
  • Pathophysiology Anophthalmia occurs when the neuroectoderm of the primary optic vesicle fails to develop properly from the anterior neural plate of the neural tube during embryological development.[emedicine.com]
  • Pathophysiology The MFRP protein is selectively expressed in the retinal pigment epithelium (RPE) and the ciliary body, with low expression in the brain.[eyewiki.aao.org]

Prevention

  • In patients with congenital anophthalmos and severe microphthalmos, a tiny orbit and socket exist with little eyelids, frequently preventing retention of a standard conformer or prosthesis.[ncbi.nlm.nih.gov]
  • CDC funds the Centers for Birth Defects Research and Prevention, which collaborate on large studies such as the National Birth Defects Prevention Study (NBDPS; births 1997-2011) and the Birth Defects Study To Evaluate Pregnancy exposureS (BD-STEPS; began[cdc.gov]
  • Prevention There is no known prevention for either, since these clinical signs are commonly associated with genetic inheritance. Resources BOOKS Yanoff, Myron, et al, editors. Ophthalmology. 1st ed. Mosby International Ltd., 1999.[encyclopedia.com]

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