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Anophthalmos

Anophthalmias


Presentation

  • The other end of the spectrum in which the minimal effect on the globe was present (unilateral absence of choriocapillaris and retinal pigment epithelium inferiorly) was reported by Cotlier & Alghadyan in 1981.[ncbi.nlm.nih.gov]
Heart Disease
  • The proband presented at the age of six months with: right anophthalmos and hypoplasia of the orbit at the same side, hypoplasia of the right mandible and maxilla, right external ear deformity, cyanotic heart disease, hemivertebrae, cataract and corneal[ncbi.nlm.nih.gov]
Ear Deformity
  • The proband presented at the age of six months with: right anophthalmos and hypoplasia of the orbit at the same side, hypoplasia of the right mandible and maxilla, right external ear deformity, cyanotic heart disease, hemivertebrae, cataract and corneal[ncbi.nlm.nih.gov]
Night Blindness
  • Two mothers had a history of night blindness, and one had a history of pesticide exposure during pregnancy. High rates of consanguinity suggest a genetic recessive aetiology.[ncbi.nlm.nih.gov]
Retinal Pigmentation
  • The other end of the spectrum in which the minimal effect on the globe was present (unilateral absence of choriocapillaris and retinal pigment epithelium inferiorly) was reported by Cotlier & Alghadyan in 1981.[ncbi.nlm.nih.gov]
Absent Lacrimation

Workup

  • This paper presents the clinical presentation, workup, and surgical approach of the case. The nasolacrimal system of the patient was occluded on irrigation.[ncbi.nlm.nih.gov]

Treatment

  • Methods and indications of treatment are discussed.[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

  • All individuals with OAS should receive evaluation by a vision teacher and special education may be necessary.PrognosisLittle is known about the prognosis given the rarity but quality of life is usually affected due to intellectual disability, visual[malacards.org]
  • 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]

Etiology

  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • Apart from the rarity of the anophthalmos and the total absence of the optic pathways, no etiologic reason for this pathology could be detected, which makes this case more significant.[ncbi.nlm.nih.gov]
  • Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management[books.google.com]

Epidemiology

  • Corresponding author Department of Epidemiology and International Eye Health, Institute of Ophthalmology, 11–43 Bath Street, London EC1V 9EL, UK.[cambridge.org]
  • Kallen B, Robert E, Harris J (1996) The descriptive epidemiology of anophthalmia and microphthalmia. Int J Epidemiol 25:1009–1016 PubMed Google Scholar 23.[link.springer.com]
  • Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997. Am J Med Genet A. 2005 Aug 15. 137(1):36-40. [Medline]. Boyd PA, Haeusler M, Barisic I.[emedicine.medscape.com]
  • Summary Epidemiology Prevalence is unknown but less than 30 cases (male and female) have been described in the literature so far.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • 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.medscape.com]
  • 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]

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]
  • Abstract 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.[unboundmedicine.com]
  • Treatment is needed for infants born with Anophthalmos to stretch the orbital socket for prosthesis and / or to prevent severe deformation of the face with growth. Microphthalmos is more common than Anophthalmos.[babymed.com]
  • Early detection and treatment could prevent vision loss. See an eye care professional right away if you have a sudden change in vision, if everything looks dim, or if you see flashes of light.[icdlist.com]

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