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]

Clinical features The most common presenting signs are leukoria (white papillary reflex due to a dense retrolenticular membrane or cataractous lens), microphthalmia and cataract, but the clinical presentation may vary. [institut-vision.org]

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]

• Refractory Anemia

  […] jaundice 【難治性歯周炎】 *refractory periodontitis 【難聴】*deafness *hearing impairment *[＝聴力損失] hearing loss *bradyacusia *hypacusis (ニ) 【ニコチン性口内炎】*nicotinic stomatitis 【ニューモシスチス症】*pneumocystosis 【ニワトリ歩行】*steppage gait (＝鶏歩) (肉) 【肉眼的膿尿】*macropyuria 【肉芽腫】*granuloma [medo.jp]

• Narrow Thorax

  Other skeletal anomalies have been reported: pectus excavatum, a broad or a narrow thorax, hyperkyphosis, scoliosis, pes cavus. [fetalultrasound.com]

• Depressed Nasal Bridge

  nasal bridge, anti-mongoloid palpebral splits, mental retardation) · Weill-Marchesani (myopathy, metaphyseal abnormalities, brachydactyly, microphakia: autosomal-recessive disease) · Michels (blepharophimosis, ptosis, epicanthus, cleft palate, deafness [fetalultrasound.com]

• Compulsive Disorder

  Medica progress: Bipolar Disorder NEJM 2004;351:476-486 強迫製障害： Jenike MA. Obsessive-Compulsive Disorder. NEJM 2004;350:259-265. 統合失調症： Kim T Mueser, Susan R McGurk. Schizophrenia. Lancet 2004;363:2063-72 Freedman R. [square.umin.ac.jp]

• 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]

• Generalized Seizure

  (略 SLE) ^＝全身性エリテマトーデス 【全身性進行性硬化症】*progressive systemic sclerosis 【全身性癲癇】*generalized epilepsy 【全身性皮膚硬化症】*systemic scleroderma (＝全身性強皮症) 【全身性ヘモジデリン沈着症】【全身性ヘモジデリン症】*generalized hemosiderosis 【全身性発作】*generalized seizure 【全身性リウマチ】*systemic rheumatism 【全身痛 [medo.jp]

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]

  […] dysfunction 【心筋梗塞】*myocardial infarction 【心筋障害】【心筋症】*cardiomyopathy *myocardiopathy 【心筋線維症】*myocardial fibrosis (略 MF) 【心筋軟化症】*myomalacia cordis[L] 【心原性ショック】*cardiogenic shock 【心室性肥大】【心室肥大】*ventricular hypertrophy 【心室中隔欠損症】*ventricular septal defect [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]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

In addition, the study will compare the occurrence of postoperative complications and the degree of parental stress between the two treatments. [clinicaltrials.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]

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

This is an effective way to prevent many of these patients from developing glaucoma. Usually, this prophylactic procedure is done when the patient is still a child. [reviewofophthalmology.com]

CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents. [orpha.net]