Cell Collection to Study Eye Diseases

Inclusion criteria

• To be eligible, participants must meet the following inclusion criteria.
• Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity.
• Participant meets one of the following criteria:
• Participant has been diagnosed with an ocular condition of interest including but not limited to: degenerative retinal diseases, optic atrophy, microphthalmia/anophthalmia, ciliopathy, and other ocular developmental or degenerative conditions.
• Participant is free of eye diseases and could serve as an unaffected control. Participant's age, sex, and ethnicity must match an existing participant with one of the eye diseases under study. Control participants matched to AMD participants must not have drusen greater than 63 microns in size.
• Adult participant is able to provide a punch skin biopsy and 30 mL of peripheral venous blood OR child participant is able to provide a punch skin biopsy and the lesser of 5 mL/kg or 30 mL of peripheral venous blood. Healthy, unaffected children will only have one skin punch biopsy done 3mm or less in size. In affected participants, an additional punch may be gathered if the initial sample does not contain adequate cells. This will be taken from children ages seven years and older. Sampling of ten occipital hairs and/or saliva may be pursued at the investigator's discretion. Participants not able to provide a skin biopsy or blood sample may opt to provide 100-200 ml of fresh urine. As a rule, samples will be collected on non-sedated/anesthetized participants. Sedation/anesthesia will NOT be used solely for the purpose of sample collection. In rare instances where a minor requires sedation for another medically indicated procedure, samples may be collected at the time of sedation/anesthesia. Because young children may not be able to cooperate with sample collection, those unable to provide a skin biopsy, urine sample or a blood sample may be excluded from the study, based on the judgment of the examining investigator.
• Participant meets one of the following criteria:
• Participant affected with an ocular condition is one year of age or older.
• Participant affected with Best disease, L-ORD, or AMD is 18 years of age or older.
• Unaffected participant is seven years of age or older and willing and able to provide assent.

Exclusion criteria

• A participant is not eligible if any of the following exclusion criteria are present.
• Participant is unable to comply with study procedures.
• Participant has a systemic disease that, in the opinion of the investigator, compromises the ability to provide adequate samples. Examples of co-existing diseases that would exclude a participant include a bleeding diathesis or a genetic susceptibility to infections, particularly cutaneous infections. ADDITIONAL CRITERIA FOR CLNICAL-GRADE CELL LINE GENERATION: The additional eligibility criteria must be met for participants donating samples for the generation of clinical-grade cell lines. Inclusion Criteria
• Participant must be greater than 18 years of age, as of the date of enrollment. There is no upper age limit for donor enrollment.
• Participant is able to provide a punch skin biopsy and 200 ml of peripheral venous blood.
• Participant is willing and eligible to co-enroll in NEI protocol 15-EI-0128. Exclusion Criteria
• Participant has medical history that includes any of the following:
• Thrombocytopenia or other blood dyscrasias
• Bleeding diathesis
• Antibiotic use within the prior 48 hours
• Active cancer or history of cancer within the past five years
• History of exposure to transfusion transmitted diseases including HIV and hepatitis B and C as defined by the Standards for Blood Banking and Transfusion Services, American Association of Blood Banks.
• Travel to an area where malaria is endemic as defined by the CDC (www.cdc.gov/travel)
• At risk for the possible transmission of Creuzefeldt-Jackob Disease (CJD) and Variant Creuzefeldt-Jackob Disease (vCJD) as described in the FDA Guidance for Industry, January 9, 2002, "Revised Preventive Measures to Reduce the Possible Risk of Transfusion of Creuzefeldt-Jackob Disease (CJD) and Variant Creuzefeldt-Jackob Disease (vCJD) by Blood and Blood Products"
• Participant is currently febrile (temperature \> 38 degrees C)
• Participant has Hemoglobin level:
• African American women \<11.5 grams/dL
• Other women \< 12.0 grams/dL
• Men \<12.5 grams/dL
• Participant has low hematocrit (HCT):
• African American women \< 34%
• Other women \<36%
• Participant has Platelets \<150 x 103/microL
• Participant has Absolute neutrophil count \<1.0 x 103/microL.
• Participant has positive tests for blood borne pathogens (as required by the Standards for Blood Banks and Transfusion Services, American Association of Blood Banks. The currently required tests include anti-HIV1/2, anti-HCV, anti-HBc, Anti-HTLV I/II, anti-T. Cruzi, HBsAg, syphilis, and molecular testing for West Nile virus, HCV, HBV, and HIV-1).