Group II presented a significantly better result in Down’s Syndrome than in Lenz’s syndrome, which was microphalic. [sboportal.org.br]

When MRI scanning is unable to clarify which malformation is present, other diagnostic steps may sometimes be taken to determine whether rudimentary (vestigial) portions of the eyes are present or absent. [rarediseases.org]

Cataracts may be present. Nystagmus may be present secondary to impaired vision. [ncbi.nlm.nih.gov]

En el presente estudio se analiza la expresión del gen MITF en sangre periférica de un grupo de individuos con melanoma, comparándola con un grupo de personas sin cáncer y en algunas líneas celulares. [glosbe.com]

• Developmental Delay

  Approximately 22/35 of affected males have mild-to-severe intellectual disability or developmental delay [ Ng et al 2002 ]. Motor development may be delayed. [ncbi.nlm.nih.gov]

  Most affected infants also exhibit developmental delay and mental retardation, ranging from mild to severe. [rarediseases.org]

• Short Stature

  Such heterozygous females may have abnormalities of the fingers and/or toes (digital anomalies), an unusually small head (microcephaly), and/or short stature. Causes Lenz microphthalmia syndrome is inherited as an X-linked recessive trait. [rarediseases.org]

• Disability

  Approximately 22/35 of affected males have mild-to-severe intellectual disability or developmental delay [ Ng et al 2002 ]. Motor development may be delayed. [ncbi.nlm.nih.gov]

• Short Arm

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome Xq27” refers to band 27 on the long arm of the X chromosome. [rarediseases.org]

• Hearing Impairment

  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]

• Long Narrow Face

  Stellzig Medicine American journal of medical genetics 1999 The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary glaucoma, vision impairment, ptosis, long narrow face, high nasal bridge, broad nasal tip with separated [semanticscholar.org]

• Nystagmus

  Nystagmus may be present secondary to impaired vision. Absence or diminished size of the globe may cause secondary underdevelopment of the bony orbits, shortened palpebral fissures, and fusion of the eyelid margins (ankyloblepharon). Craniofacial. [ncbi.nlm.nih.gov]

Standard Therapies Treatment The treatment of Lenz microphthalmia syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Treatment for hearing loss and sleep disorders is dependent on the specific defect and similar to the general population. [ncbi.nlm.nih.gov]

Visual acuity results following treatment of persistent hyperplastic primary vitreous. Arch Ophthalmol. 1986;104(5):662-7. 22. Motono M, Tartarella MB, Zin A, Macedo R, Kitadai SP. Resultados de lensectomia em catarata infantil. [sboportal.org.br]

There is no specific treatment for Lenz microphthalmia, and the long term outlook is based on the symptoms. Hace parte de un grupo de enfermedades genéticas conocidas como microftalmia sindrómica. [glosbe.com]

[…] interfere in the final visual acuity after the surgery of congenital cataract. (17) Another aspect that interfered in the visual result was the fact that children with microphthalmia whose cataracts with a greater chance of a better postoperative visual prognosis [sboportal.org.br]

[…] and needs in an individual diagnosed with Lenz microphthalmia syndrome (LMS), the following evaluations are recommended: Physical examination for the presence of anomalies associated with the disorder Cranial MRI to estimate the size of the globes for prognosis [ncbi.nlm.nih.gov]

Heritable etiologies and the other etiologies could not be compared due to the small number of the sample. Table 8 presents the visual results of aphasic eyes in Group I versus Group II operated after 4 months of age. [sboportal.org.br]

Prevention of Secondary Complications No special preventative care is recommended. Follow-up care is personalized based on the physical impairments found in the individual. [ncbi.nlm.nih.gov]

Pediatricians; physicians who diagnose and treat diseases of the eye (ophthalmologists); dental specialists who diagnose, prevent, and/or correct abnormalities of the teeth (orthodontists); specialists who diagnose and treat skeletal abnormalities (orthopedists [rarediseases.org]