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267 studies found for:    "Eye Diseases, Hereditary" OR "Lenz microphthalmia syndrome"
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Rank Status Study
1 Completed Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
Conditions: Retinitis Pigmentosa;   Retinal Diseases;   Eye Diseases;   Eye Disease, Hereditary;   Retinal Degeneration
Intervention: Drug: Valproic Acid
2 Not yet recruiting Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65)
Conditions: Leber Congenital Amaurosis (LCA);   Eye Diseases;   Eye Diseases, Hereditary;   Retinal Diseases
Intervention: Genetic: AAV2/5-OPTIRPE65
3 Unknown  Doxycycline Treatment in Mild Graves' Orbitopathy
Conditions: Graves Ophthalmopathy;   Graves Disease;   Eye Diseases;   Thyroid Diseases;   Endocrine System Diseases;   Eye Diseases, Hereditary;   Hyperthyroidism;   Autoimmune Diseases;   Immune System Diseases
Interventions: Drug: Doxycycline;   Drug: placebo
4 Completed Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves' Orbitopathy
Conditions: Graves Ophthalmopathy;   Graves Disease;   Eye Diseases;   Thyroid Diseases;   Endocrine System Diseases;   Eye Diseases, Hereditary;   Hyperthyroidism;   Autoimmune Diseases;   Immune System Diseases
Intervention: Drug: Doxycycline
5 Completed Fundus Changes in the Microphthalmy Eyes
Condition: Eye Diseases, Hereditary
6 Completed Evaluation and Treatment of Patients With Inherited Eye Diseases
Condition: Hereditary Eye Disease
7 Completed Screening for Studies on Inherited Eye Diseases
Condition: Hereditary Eye Disease
8 Recruiting Inherited Retinal Degenerative Disease Registry
Conditions: Eye Diseases Hereditary;   Retinal Disease;   Achromatopsia;   Bardet-Biedl Syndrome;   Bassen-Kornzweig Syndrome;   Batten Disease;   Best Disease;   Choroidal Dystrophy;   Choroideremia;   Cone Dystrophy;   Cone-Rod Dystrophy;   Congenital Stationary Night Blindness;   Enhanced S-Cone Syndrome;   Fundus Albipunctatus;   Goldmann-Favre Syndrome;   Gyrate Atrophy;   Juvenile Macular Degeneration;   Kearns-Sayre Syndrome;   Leber Congenital Amaurosis;   Refsum Syndrome;   Retinitis Pigmentosa;   Retinitis Punctata Albescens;   Retinoschisis;   Rod-Cone Dystrophy;   Rod Dystrophy;   Rod Monochromacy;   Stargardt Disease;   Usher Syndrome
9 Withdrawn Intravitreal Bevacizumab vs.Combination Therapy for CNV Due to Other Than AMD
Conditions: Choroidal Neovascularization;   Myopia;   Punctate Inner Choroidopathy (PIC);   Multifocal Choroiditis;   Ocular Histoplasmosis Syndrome;   Central Serous Chorioretinopathy (CSC);   Angioid Streaks;   Trauma, or Hereditary Eye Diseases
Interventions: Drug: Bevacizumab (Avastin; Genentech, Inc.);   Drug: Bevacizumab, Dexamethasone, Verteporfin Photodynamic Therapy
10 Recruiting Congenital Muscle Disease Study of Patient and Family Reported Medical Information
Conditions: Muscular Dystrophy;   Congenital Muscular Dystrophy;   Fukutin-related Protein Gene;   Limb Girdle;   FKRP Gene;   Childhood Onset LGMD;   Adult Onset LGMD;   POMT1;   POMT2;   POMGnT1;   LARGE;   Alpha Dystroglycan;   Dystroglycanopathy;   Centronuclear;   Multiminicore;   Multicore;   Minicore;   Congenital Fiber Type Disproportion;   Myotubular;   Nemaline;   Congenital Myopathy;   Neuromuscular;   Rigid Spine;   Phenotype-Genotype Correlation;   Cough Assisted Device;   Neuromuscular Disease;   Respiratory Exacerbation;   Invasive Ventilation;   Chest Physiotherapy;   Congenital Myopathies;   Genetic Mutations;   Hypertrophic Cardiomyopathy;   Wheelchair Use;   Cataract;   Opthalmoplegia;   Ullrich Congenital Muscular Dystrophy;   Intermediate Collagen VI Myopathy;   Laminin Alpha 2 Related Congenital Muscular Dystrophy;   MDC1A;   Merosin Deficient Congenital Muscular Dystrophy;   Congenital Muscular Dystrophy Undiagnosed;   Congenital Muscular Dystrophy Merosin Positive;   Walker Warburg Syndrome;   Muscle Eye Brain Disease;   Fukuyama;   Integrin Alpha 7 Deficiency;   Integrin Alpha 9 Deficiency;   Laminopathy;   Lamin AC;   SEPN 1 Related Myopathies;   Bethlem Myopathy;   Dystroglycanopathies;   LGMD2K;   LGMD2I;   LGMD2L;   LGMD2N;   Actin Aggregation Myopathy;   Cap Disease;   Central Core Disease;   Centronuclear Myopathy;   Core Rod Myopathy;   Hyaline Body Myopathy;   Multiminicore Myopathy;   Myotubular Myopathy;   Nemaline Myopathy;   Tubular Aggregate Myopathy;   Zebra Body Disease Myopathy;   Congenital Myopathy Other;   Reducing Body Myopathy;   Sarcotubular Myopathy;   Spheroid Body Myopathy
11 Active, not recruiting Safety and Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients
Conditions: Retinitis Pigmentosa;   Retinal Degeneration
Intervention: Device: Device name: "Retina Implant model Alpha". Surgical implantation of medical device into eye
12 Completed Visual Activity Evoked by Infrared in Humans After Dark Adaptation
Conditions: Age Related Macular Degeneration;   Retinitis Pigmentosa;   Congenital Stationary Night Blindness;   Colorblindness
Interventions: Other: Tungsten halogen light with narrow bandpass filters;   Other: ERG;   Other: VEP
13 Recruiting Interferon Gamma-1b Administered Topically for Macular Edema/Intraretinal Schisis Cysts in Rod-Cone Dystrophy (RCD) and Enhanced S-Cone Syndrome (ESCS)
Conditions: Inherited Ophthalmic Diseases;   Inherited Retinal Degeneration
Intervention: Drug: Interferon gamma-1b
14 Recruiting Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders;   Undiagnosed Disorders;   Disorders of Unknown Prevalence;   Cornelia De Lange Syndrome;   Prenatal Benign Hypophosphatasia;   Perinatal Lethal Hypophosphatasia;   Odontohypophosphatasia;   Adult Hypophosphatasia;   Childhood-onset Hypophosphatasia;   Infantile Hypophosphatasia;   Hypophosphatasia;   Kabuki Syndrome;   Bohring-Opitz Syndrome;   Narcolepsy Without Cataplexy;   Narcolepsy-cataplexy;   Hypersomnolence Disorder;   Idiopathic Hypersomnia Without Long Sleep Time;   Idiopathic Hypersomnia With Long Sleep Time;   Idiopathic Hypersomnia;   Kleine-Levin Syndrome;   Kawasaki Disease;   Leiomyosarcoma;   Leiomyosarcoma of the Corpus Uteri;   Leiomyosarcoma of the Cervix Uteri;   Leiomyosarcoma of Small Intestine;   Acquired Myasthenia Gravis;   Addison Disease;   Hyperacusis (Hyperacousis);   Juvenile Myasthenia Gravis;   Transient Neonatal Myasthenia Gravis;   Williams Syndrome;   Lyme Disease;   Myasthenia Gravis;   Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome);   Isolated Klippel-Feil Syndrome;   Frasier Syndrome;   Denys-Drash Syndrome;   Beckwith-Wiedemann Syndrome;   Emanuel Syndrome;   Isolated Aniridia;   Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11;   Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15;   Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/Inversion;   Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication;   Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion;   Axenfeld-Rieger Syndrome;   Aniridia-intellectual Disability Syndrome;   Aniridia - Renal Agenesis - Psychomotor Retardation;   Aniridia - Ptosis - Intellectual Disability - Familial Obesity;   Aniridia - Cerebellar Ataxia - Intellectual Disability;   Aniridia - Absent Patella;   Aniridia;   Peters Anomaly - Cataract;   Peters Anomaly;   Potocki-Shaffer Syndrome;   Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11;   Silver-Russell Syndrome Due to Imprinting Defect of 11p15;   Silver-Russell Syndrome Due to 11p15 Microduplication;   Syndromic Aniridia;   WAGR Syndrome;   Wolf-Hirschhorn Syndrome;   4p16.3 Microduplication Syndrome;   4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome;   Autosomal Recessive Stickler Syndrome;   Stickler Syndrome Type 2;   Stickler Syndrome Type 1;   Stickler Syndrome;   Mucolipidosis Type 4;   X-linked Spinocerebellar Ataxia Type 4;   X-linked Spinocerebellar Ataxia Type 3;   X-linked Intellectual Disability - Ataxia - Apraxia;   X-linked Progressive Cerebellar Ataxia;   X-linked Non Progressive Cerebellar Ataxia;   X-linked Cerebellar Ataxia;   Vitamin B12 Deficiency Ataxia;   Toxic Exposure Ataxia;   Unclassified Autosomal Dominant Spinocerebellar Ataxia;   Thyroid Antibody Ataxia;   Sporadic Adult-onset Ataxia of Unknown Etiology;   Spinocerebellar Ataxia With Oculomotor Anomaly;   Spinocerebellar Ataxia With Epilepsy;   Spinocerebellar Ataxia With Axonal Neuropathy Type 2;   Spinocerebellar Ataxia Type 8;   Spinocerebellar Ataxia Type 7;   Spinocerebellar Ataxia Type 6;   Spinocerebellar Ataxia Type 5;   Spinocerebellar Ataxia Type 4;   Spinocerebellar Ataxia Type 37;   Spinocerebellar Ataxia Type 36;   Spinocerebellar Ataxia Type 35;   Spinocerebellar Ataxia Type 34;   Spinocerebellar Ataxia Type 32;   Spinocerebellar Ataxia Type 31;   Spinocerebellar Ataxia Type 30;   Spinocerebellar Ataxia Type 3;   Spinocerebellar Ataxia Type 29;   Spinocerebellar Ataxia Type 28;   Spinocerebellar Ataxia Type 27;   Spinocerebellar Ataxia Type 26;   Spinocerebellar Ataxia Type 25;   Spinocerebellar Ataxia Type 23;   Spinocerebellar Ataxia Type 22;   Spinocerebellar Ataxia Type 21;   Spinocerebellar Ataxia Type 20;   Spinocerebellar Ataxia Type 2;   Spinocerebellar Ataxia Type 19/22;   Spinocerebellar Ataxia Type 18;   Spinocerebellar Ataxia Type 17;   Spinocerebellar Ataxia Type 16;   Spinocerebellar Ataxia Type 15/16;   Spinocerebellar Ataxia Type 14;   Spinocerebellar Ataxia Type 13;   Spinocerebellar Ataxia Type 12;   Spinocerebellar Ataxia Type 11;   Spinocerebellar Ataxia Type 10;   Spinocerebellar Ataxia Type 1 With Axonal Neuropathy;   Spinocerebellar Ataxia Type 1;   Spinocerebellar Ataxia - Unknown;   Spinocerebellar Ataxia - Dysmorphism;   Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature;   Spectrin-associated Autosomal Recessive Cerebellar Ataxia;   Spasticity-ataxia-gait Anomalies Syndrome;   Spastic Ataxia With Congenital Miosis;   Spastic Ataxia - Corneal Dystrophy;   Spastic Ataxia;   Rare Hereditary Ataxia;   Rare Ataxia;   Recessive Mitochondrial Ataxia Syndrome;   Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature;   Posterior Column Ataxia - Retinitis Pigmentosa;   Post-Stroke Ataxia;   Post-Head Injury Ataxia;   Post Vaccination Ataxia;   Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract;   Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus;   Non-progressive Cerebellar Ataxia With Intellectual Disability;   Non-hereditary Degenerative Ataxia;   Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity;   Olivopontocerebellar Atrophy - Deafness;   NARP Syndrome;   Myoclonus - Cerebellar Ataxia - Deafness;   Multiple System Atrophy, Parkinsonian Type;   Multiple System Atrophy, Cerebellar Type;   Multiple System Atrophy;   Maternally-inherited Leigh Syndrome;   Machado-Joseph Disease Type 3;   Machado-Joseph Disease Type 2;   Machado-Joseph Disease Type 1;   Lethal Ataxia With Deafness and Optic Atrophy;   Leigh Syndrome;   Leukoencephalopathy With Mild Cerebellar Ataxia and White Matter Edema;   Leukoencephalopathy - Ataxia - Hypodontia - Hypomyelination;   Leigh Syndrome With Nephrotic Syndrome;   Leigh Syndrome With Leukodystrophy;   Leigh Syndrome With Cardiomyopathy;   Late-onset Ataxia With Dementia;   Intellectual Disability-hyperkinetic Movement-truncal Ataxia Syndrome;   Infection or Post Infection Ataxia;   Infantile-onset Autosomal Recessive Nonprogressive Cerebellar Ataxia;   Infantile Onset Spinocerebellar Ataxia;   GAD Ataxia;   Hereditary Episodic Ataxia;   Gliadin/Gluten Ataxia;   Friedreich Ataxia;   Fragile X-associated Tremor/Ataxia Syndrome;   Familial Paroxysmal Ataxia;   Exposure to Medications Ataxia;   Episodic Ataxia With Slurred Speech;   Episodic Ataxia Unknown Type;   Episodic Ataxia Type 7;   Episodic Ataxia Type 6;   Episodic Ataxia Type 5;   Episodic Ataxia Type 4;   Episodic Ataxia Type 3;   Episodic Ataxia Type 1;   Epilepsy and/or Ataxia With Myoclonus as Major Feature;   Early-onset Spastic Ataxia-neuropathy Syndrome;   Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity;   Early-onset Cerebellar Ataxia With Retained Tendon Reflexes;   Early-onset Ataxia With Dementia;   Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia;   Dilated Cardiomyopathy With Ataxia;   Cataract - Ataxia - Deafness;   Cerebellar Ataxia, Cayman Type;   Cerebellar Ataxia With Peripheral Neuropathy;   Cerebellar Ataxia - Hypogonadism;   Cerebellar Ataxia - Ectodermal Dysplasia;   Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss;   Brain Tumor Ataxia;   Brachydactyly - Nystagmus - Cerebellar Ataxia;   Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia;   Autosomal Recessive Syndromic Cerebellar Ataxia;   Autosomal Recessive Spastic Ataxia With Leukoencephalopathy;   Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay;   Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria;   Autosomal Recessive Spastic Ataxia;   Autosomal Recessive Metabolic Cerebellar Ataxia;   Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine;   Autosomal Recessive Ataxia, Beauce Type;   Autosomal Recessive Ataxia Due to Ubiquinone Deficiency;   Autosomal Recessive Ataxia Due to PEX10 Deficiency;   Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia;   Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency;   Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency;   Autosomal Recessive Congenital Cerebellar Ataxia;   Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome;   Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity;   Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency;   Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect;   Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion;   Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation;   Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness;   Autosomal Recessive Cerebellar Ataxia;   Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly;   Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation;   Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy;   Autosomal Dominant Spastic Ataxia Type 1;   Autosomal Dominant Spastic Ataxia;   Autosomal Dominant Optic Atrophy;   Ataxia-telangiectasia Variant;   Ataxia-telangiectasia;   Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy;   Autosomal Dominant Cerebellar Ataxia Type 4;   Autosomal Dominant Cerebellar Ataxia Type 3;   Autosomal Dominant Cerebellar Ataxia Type 2;   Autosomal Dominant Cerebellar Ataxia Type 1;   Autosomal Dominant Cerebellar Ataxia;   Ataxia-telangiectasia-like Disorder;   Ataxia-intellectual Disability-oculomotor Apraxia-cerebellar Cysts Syndrome;   Ataxia-deafness-intellectual Disability Syndrome;   Ataxia With Vitamin E Deficiency;   Ataxia With Dementia;   Ataxia Neuropathy Spectrum;   Ataxia - Tapetoretinal Degeneration;   Ataxia - Photosensitivity - Short Stature;   Ataxia - Pancytopenia;   Ataxia - Oculomotor Apraxia Type 1;   Ataxia - Hypogonadism - Choroidal Dystrophy;   Ataxia - Other;   Ataxia - Genetic Diagnosis - Unknown;   Acquired Ataxia;   Adult-onset Autosomal Recessive Cerebellar Ataxia;   Alcohol Related Ataxia
15 Completed Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene
Condition: Night Blindness
Intervention: Dietary Supplement: alga Dunaliella bardawil
16 Completed Studies of Heritable Disorders of Connective Tissue
Conditions: Ehlers-Danlos Syndrome;   Stickler Syndrome;   Marfan Syndrome
17 Active, not recruiting Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis Implantation
Conditions: Graft vs Host Disease;   Congenital Aniridia;   Chemical Burns;   Stevens-Johnson Syndrome;   Congenital Glaucoma
Intervention: Device: ARGOS-IO system
18 Recruiting Autologous Adipose-Derived Adult Stem Cell Transplantation for Corneal Diseases
Conditions: Hereditary Corneal Dystrophy;   Keratoconus
Interventions: Procedure: Lipoaspiration;   Procedure: Transplantation
19 Not yet recruiting Observational Natural History Study of Autosomal Dominant Retinitis Pigmentosa (adRP)
Conditions: Retinitis Pigmentosa;   Autosomal Dominant Retinitis Pigmentosa (adRP)
20 Recruiting Clinical Study of a Single Ciliopathy: Alström Syndrome
Condition: Alström Syndrome (ALMS)

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Indicates status has not been verified in more than two years