Question: My cousin she is leber amaurosis she need help I don't know where to start from

Reference:
 Leber congenital amaurosis LCA Congenital absence of the rods and cones Congenital retinal blindness LCA Congenital absence of the rods and cones Congenital retinal blindness Leber's amaurosis Leber's congenital tapetoretinal degeneration Leber's congenital tapetoretinal dysplasia See More Summary Leber congenital amaurosis (LCA) is an eye disorder that primarily affects the retina. People with this condition typically have severe visual impairment beginning in infancy. Other features include photophobia, involuntary movements of the eyes ( nystagmus ), and extreme farsightedness. The pupils also do not react normally to light. Additionally, the cornea may be cone-shaped and abnormally thin ( keratoconus). Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. [1] Different subtypes have been described. The different subtypes are caused by mutations in different genes . Some of these subtypes are also distinguished by their patterns of vision loss and related eye abnormalities. Treatment includes correction farsightedness and use of Symptoms Leber congenital amaurosis (LCA) primarily affects the retina, the specialized tissue at the back of the eye that detects light and color. Beginning in infancy, people with LCA typically have severe visual impairment. This is most often non-progressive, but sometimes it very slowly worsens over time. Other vision problems associated with LCA include: [2] [3] Photophobia Nystagmus Clouding of the lens of the eyes ( cataract ) Crossed eyes (strabismus) Enophthalmos (eye balls are dislocated backward) Abnormal retinal pigment Extreme farsightedness (hyperopia) Pupils that may not react normally to light; they may expand and contract more slowly than normal, or they may not respond to light at all Keratoconus, a condition in which the cornea is cone-shaped and abnormally thin, may also be present A specific behavior called Franceschetti's oculodigital sign is characteristic of LCA. This behavior consists of poking, pressing, and rubbing the eyes with a knuckle or finger. It may possibly contribute to deep-set eyes and keratoconus in affected children. In rare cases, delayed development, hearing loss , and intellectual disability have been reported in people with the features of LCA. However, it is unclear whether these people actually have LCA or another syndrome with similar signs and symptoms. [4] This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom. Showing of Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Abnormality of retinal pigmentation 0007703 Abnormality of the optic disc 0012795 Severe vision loss Marked vision impairment Severe visual impairment Severely impaired vision 0001141 30%-79% of people have these symptoms Abnormal electroretinogram 0000512 Abnormality of neuronal migration 0002269 Aplasia/Hypoplasia of the cerebellar vermis 0006817 Cataract Clouding of the lens of the eye Cloudy lens 0000518 Encephalocele 0002084 Hemiplegia/hemiparesis Paralysis or weakness of one side of body 0004374 Keratoconus Bulging cornea 0000563 Muscular hypotonia Low or weak muscle tone 0001252 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Seizures Seizure 0001250 5%-29% of people have these symptoms Global developmental delay 0001263 Hearing impairment Deafness Hearing defect 0000365 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation 0001249 Showing of Diagnosis Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person's medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment FDA-Approved Treatments The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products. National Library of Medicine Drug Information Portal Related Diseases Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease. Conditions with similar signs and symptoms from Orphanet Differential diagnosis includes retinitis pigmentosa, Alstrom syndrome, Joubert syndrome, Stargardt disease, Senior-Loken syndrome, Conorenal syndrome and infantile neuronal ceroid lipofuscinosis. Cortical blindness is a frequent misdiagnosis when there is limited access to functional testing or high resolution morphological examination. Visit the Orphanet disease page for more information. 

Answer: The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.