Here, we present the analysis of a consanguineous family with three siblings who had bilateral aphakia, microphthalmia, and complete agenesis of the ocular anterior segment. [ncbi.nlm.nih.gov]

The lens was present in the pupillary area. Unaided vision was 6/60. Refraction was 13.0 D in both meridians and he improved to 6/18 with glasses ( 12.0 D Sph.) Fundus Examination: Media were clear. [ijo.in]

Aphakia, congenital primary Overview Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. [checkorphan.org]

This new edition presents unparalleled guidance on nearly every ophthalmic condition and procedure including the latest advances in the field, such as optical coherence tomography (OCT), the ocular surface, new pharmacologic therapies, updated oculoplastic [books.google.com]

Get Update Overview Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. [diseaseinfosearch.org]

• Turkish

  Congenital Aphakia (Turkish) Oto-Noro-Oftalmojoli (Turk) 2, 43 (1947) Ref. Klin. MN. Augenheilk 117, 428 (1950). 8. TOUFESCO, S.: Note on congenital aphakia (French) Ann. Oculist (Paris) 132, 107-117 (1904). 9. [ijo.in]

  Two CYP1B1 mutations detected in our patients (p.G61E and p.A1195) had an established pathogenicity. 12 As for the L432V, the literature is inconclusive about its pathogenic role as this mutation has been detected in normal Turkish and Japanese populations [dovepress.com]

• Atrial Septal Defect

  septal defect (略 ASD) 【心房粘液腫】*atrial myxoma 【心膜炎】*pericarditis (唇) 【唇外反】*eclabium 【唇顎口蓋裂】*cheilognathopalatoschisis 【唇顎裂】【唇顎披裂】*cheilognathoschisis 【唇発育不全】*atelocheilia 【唇裂】*cleft lip *cheiloschisis ( 口唇裂) (真) 【真菌感染症】【真菌症】*fungal disease/*fungus disease [medo.jp]

• Hirsutism

  Facial hirsutism has also been described (2). Ocular features: i. [fetalultrasound.com]

  多発性粘膜神経腫】*multiple mucosal neuroma 【多発性脳梗塞】*multiple cerebral infarction 【多発性脳神経炎】*cranial polyneuritis 【多発性嚢胞】*multiple cysts[pl] 【多発性麻痺】*polyplegia 【多脾症】*polysplenia 【多病】*polypathia 【多病巣性運動神経症】*multifocal motor neuropathy 【多尿症】*polyuria 【多毛症】*pilosis *hirsutism [medo.jp]

• Hypertrichosis

  Duplication 3q syndrome (3q21-ter dup) Learning difficulties, growth deficiency, hypertrichosis, craniosynostosis, cardiac defects, chest deformities, genital abnormalities, umbilical hernia 4p- (Wolf-Hirschhorn syndrome) Growth deficiency, microcephaly [ojrd.biomedcentral.com]

• Iridodonesis

  The patient exhibited iridodonesis, nystagmus, displacement of pupil and aphakia in both eyes. SEZER [7] described connatal aphakia with iridodonesis and hyperopia of 13 dioptres in otherwise normal eyes of a 12 year old girl. [ijo.in]

• Widely Spaced Nipples

  spaced nipples Diastasis recti, Umbilical and inguinal herniae Dwarfism Syndrome: With ocular abnormalities: · SHORT (short stature, articular hyperextensibility, inguinal herniae, ocular Rieger's anomaly, dentition delay: autosomal-dominant disease) [fetalultrasound.com]

• Round Face

  Craniofacial features: i. round face in infancy, ii. a prominent forehead (70%), iii. hypertelorism (76%), iv. narrow palpebral fissures (79%), v. a long philtrum (91%), vi. cupid's bow upper lips with a thin vermillion border (98%). vii. cleft lip occurs [fetalultrasound.com]

For all patients, we performed a systemic workup through a pediatrics consult. [meajo.org]

• Ventricular Hypertrophy

  X-Ray Chest-Heart size was enlarged and showed signs of left ventricular hypertrophy. Comments Many cases of congenital aphakia have been reported in the literature. [ijo.in]

  hypertrophy 【左心低形成症候群】*hypoplastic left heart syndrome (略 HLHS) (錯) 【錯角化症】*parakeratosis 【錯書症】*paragraphia *paralexia 【錯聴症】*paracusia/*paracusis ( 聴覚性錯覚) 【錯文法】*paragrammatism 【錯味症】*parageusia 【錯論理症】*paralogia (作) 【作動不全】*dysergia (三) 【三角頭】*trigonocephaly [medo.jp]

Treatment Treatment Options: No treatment is known to restore vision. References Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B. [disorders.eyes.arizona.edu]

Helps you make optimal use of the newest drug therapies, including Anti-VEGF treatment for wet ARMD and bevacizumab treatment for complications of diabetes. [books.google.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Treatment - Aphakia- congenital primary Not supplied. Resources - Aphakia- congenital primary [checkorphan.org]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Prognosis - Aphakia- congenital primary Not supplied. Treatment - Aphakia- congenital primary Not supplied. Resources - Aphakia- congenital primary [checkorphan.org]

Prognosis Visual prognosis is usually guarded as the disease is often progressive. Early surgery may result in relatively good visual results in selected patients. [institut-vision.org]

Fortunately, the prognosis today is much better; in the majority of cases we can now control intraocular pressure and preserve vision. [reviewofophthalmology.com]

Dealing with Infant Cataracts Improved surgical techniques, safer anesthesia and improved post-surgical optical correction have greatly increased the visual prognosis in congenital aphakia. [clspectrum.com]

[…] has a significant effect on prognosis. [journals.plos.org]

The histologic findings of secondary congenital aphakia depend on the underlying etiology. [aao.org]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

This congenital malformation has been described in isolated case reports, but the etiology remains unclear. 1 In this paper, we report two cases of congenital staphyloma that were associated with CYP1B1 gene mutations. [dovepress.com]

The patterns of disease by underlying etiology also suggest that genetic diseases are important worldwide. [scielosp.org]

Although this is a form of KILD, the etiology is the absence of iris due to the PAX6 mutation. Ancillary signs such as nystagmus, corneal pannus, foveal hypoplasia, and optic nerve hypoplasia all point to the diagnosis. [journals.lww.com]

Data on epidemiology and surgery age are critical for improving management strategies for this challenging condition. [journals.plos.org]

Epidemiological studies have predicted both heritable and environmental factors in causing anophthalmia and microphthalmia. [ojrd.biomedcentral.com]

Epidemiology, onset & clinical features Epidemiology Though the exact prevalence remains unknown, PHPV is considered to be not a very rare disease. [institut-vision.org]

Relevant External Links for FOXE3 Genetic Association Database (GAD) FOXE3 Human Genome Epidemiology (HuGE) Navigator FOXE3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: FOXE3 No data available for Genatlas for FOXE3 Gene Chromosomal [genecards.org]

Ophthalmic Epidemiology, 1999, 6 : 73–81. 3. Preventing blindness in children: report of a WHO/IAPB scientific meeting. Geneva, World Health Organization, 2000 (unpublished document WHO/PBL/00.77). 4. Gilbert C et al. [scielosp.org]

Pathophysiology The primary problem in glaucoma is disease of the optic nerve. The pathophysiology is not fully understood but there is a progressive loss of retinal ganglion cells and their axons. [patient.info]

Aetiology The pathophysiological mechanism of aphakic glaucoma remains unknown. [omicsonline.org]

This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. [checkorphan.org]

This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Mutations in the FOXE3 gene have been associated with this condition. [diseaseinfosearch.org]

Conditions that could have been treated early to prevent blindness (i.e. secondary prevention) include glaucoma and ROP. [scielosp.org]

[…] held the view that the condition is the result of anomalous invagination of the optic vesicle which interferes with the normal relationship between optic vesicle and surface ectoderm which is conditional for the development of lens vesicle and also prevents [ijo.in]