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]

Infants considered for the study were scrutinized for the presence of systemic disease, and more than four years of follow-up data were available to ascertain the emergence of systemic diseases not present early in life. [consultqd.clevelandclinic.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]

• Amyloidosis

  […] a) atopic 【アトピー性喘息】*atopic asthma 【アトピー性皮膚炎】*atopic dermatitis 【アナフィラキシー】*anaphylaxis 【アフタ】*aphtha (形 *aphthous) 【アフタ性咽頭炎】*aphthous pharyngitis 【アフタ性潰瘍】 *aphthous ulcer 【アフタ性口内炎】 *aphthous stomatitis 【アフタ性歯肉炎】 *aphthous gingivitis 【アミロイド症】【アミロイドーシス】*amyloidosis [medo.jp]

• Developmental Delay

  […] with or without brain anomalies at MRI, developmental delay, short stature, genital anomalies, hypothyroidism, gonadotropin and cortisol deficiency and Chiari malformation. [bredagenetics.com]

• Heart Disease

  Other unusual associated congenital abnormalities were facial asymmetry, perceptive deafness and congenital heart disease (patent ductus arteriosus). [ijo.in]

  Contra-indications: bradycardia, heart block, uncontrolled heart failure, asthma and history of chronic obstructive pulmonary disease (COPD). Caution: depression, myasthenia gravis, possible interactions with other medication such as verapamil. [patient.info]

  *fatty infiltration of heart *steatosis cordis[L] 【心身障害】*psychosomatic disorder 【心臓炎】*carditis ^＝心筋炎 【心臓下垂症】*cardioptosis 【心臓恐怖症】*cardiophobia 【心臓疾患】【心臓病】【心疾患】*heart disease *cardiac disease *cardiopathy 【心臓心膜炎】*cardiopericarditis 【心臓性肝硬変】【心性肝硬変】*cardiac [medo.jp]

  Clinical update on adults with congenital heart disease. Lancet. 2003 Oct 18;362(9392):1305-13. 循環器疾患におけるBNPの意義 ：B-type ntriuretic peptide in cardiovascular disease. Lancet 2003;362:316-22 超音波による腹部大動脈瘤のスクリーニング ：Lederle FA. [square.umin.ac.jp]

• Hearing Impairment

  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 【肉芽腫症】*granulomatosis 【肉芽腫性口唇炎】*cheilitis granulomatosa 【肉腫】* [medo.jp]

• Ectopia Lentis

  Developmental defects Ectopia lentis  Ectopia lentis: Displacement of the lens  Congenital  Developmental  Acquired  Subluxation: Partial displacement from its normal position but remains in the pupillary area 16. [slideshare.net]

  lentis, and anterior synechiae between the iris and posterior corneal surface. [uniprot.org]

  Lentis 1, Isolated, Autosomal Dominant Ectopia Lentis, Familial Ectopia Lentis, Isolated Ectopia Lentis, Isolated, Autosomal Dominant ECTOL1 129600 Genetic Test Registry EDICT Syndrome Endothelial Dystrophy, Iris Hypoplasia, Congenital Cataract, And [ukgtn.nhs.uk]

  Congenital Anomalies See BCSC Section 6, Pediatric Ophthalmology and Strabismus, and Section 11, Lens and Cataract, for discussion of lens coloboma, ectopia lentis, and congenital cataract, as well as additional discussion of the following topics. [entokey.com]

• Visual Impairment

  [MIM:617349] Cataract 34, multiple types (CTRCT34): An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. [ghr.nlm.nih.gov]

  It has been reported that preoperatively identified nystagmus indicates impending amblyopia or other types of visual impairment [30]. [journals.plos.org]

  WHO defines blindness as a corrected visual acuity in the better eye of less than 3/60, and severe visual impairment as a corrected acuity in the better eye of less than 6/60. [scielosp.org]

  Cataract 34, multiple types (CTRCT34) [MIM:612968]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. [genecards.org]

  In its early stages it affects peripheral visual field only but as it advances it affects central vision and results in loss of visual acuity, which can lead to severe sight impairment and complete loss of vision. [patient.info]

• Blurred Vision

  Ocular side-effects: miosis - this can cause blurred vision which can affect driving and other skilled tasks, especially in the presence of a cataract. [patient.info]

• Nystagmus

  Most of such cases had other serious congenital defects like microphthalmos, microcornea, irideremia, correctopia, corneal opacities involving the whole thickness, nystagmus and persistant hyperplastic vitreous. [ijo.in]

  Synonyms APHAKIA, CONGENITAL PRIMARY; CPAK, CPA Classification developmental, eye, genetic Phenotypes Aniridia ; Anterior segment of eye aplasia ; Autosomal recessive inheritance ; Cataract ; Coloboma ; Congenital aphakia ; Microcornea ; Microphthalmia ; Nystagmus [mousephenotype.org]

  0000526 Anterior segment of eye aplasia 0007779 Autosomal recessive inheritance 0000007 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Coloboma Notched pupil 0000589 Microcornea Cornea of eye less than 10mm in diameter 0000482 Nystagmus [rarediseases.info.nih.gov]

  It has been reported that preoperatively identified nystagmus indicates impending amblyopia or other types of visual impairment [30]. [journals.plos.org]

  Most ophthalmologists opt for surgery much earlier, ideally when patients are younger than 2 months, to prevent irreversible amblyopia and sensory nystagmus in the case of bilateral congenital cataracts. The delay in surgery is because of glaucoma. [emedicine.medscape.com]

• Irritability

  Common ocular side-effects: irritation, erythema, dry eyes, blepharo-conjunctivitis and allergy anaphylactic reaction possible. Common systemic side-effects: bronchospasm, bradycardia, exacerbation of heart failure, nightmares. [patient.info]

  Lancet 2003; 362: 1819-27 過敏性腸症候群 ： In the Clinic Irritable Bowel Syndrome. Ann Intern Med (3 July 2007 ITC-2) Mertz HR. Drug therapy: Irritable bowel syndrome. NEJM 2003;349:2136 胃癌： Hohenberger P and Gretschel S. Gastric cancer. [square.umin.ac.jp]

  […] hyperventilation 【過潅流症候群】*hyperperfusion syndrome 【過形成】*hyperplasia 【過血糖症】*hyperglycemia (＝高血糖症) 【過呼吸】*hyperpnea 【過誤腫】*hamartoma 【過酸症】*chlorhydria *hyperchlorhydria (＝胃酸過多症) 【過色素性】【過染色性】*hyperchromatism 【過量輸液】*hyperhydration 【過敏症】*allergy ＝アレルギー 【過敏性結腸】*irritable [medo.jp]

• Tremor

  […] hepatitis 【中毒性肝硬変】*toxic liver cirrhosis/*toxic cirrhosis 【中毒性巨大結腸症】*toxic megacolon 【中毒性結節】*toxic nodule 【中毒性紅斑】*toxic erythema 【中毒性疾患】*toxic disease *nosotoxicosis 【中毒性湿疹】*toxic eczema 【中毒性ショック】*toxic shock 【中毒性ショック症候群】*toxic shock syndrome 【中毒性振戦】*toxic tremor [medo.jp]

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

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]

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]

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]

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]