<div className='bg-blue-200 px-4 rounded-md shadow-lg dark:text-gray-700'>
 <table>
 <tbody>
 <tr>
 <td>Condition</td>
 <td>Features</td>
 <td>Genes implicated</td>
 </tr>
 <tr>
 <td>RP</td>
 <td>&nbsp;</td>
 <td>&nbsp;</td>
 </tr>
 <tr>
 <td>X-linked</td>
 <td>Early onset Night blindness, progressive VF constriction and loss of vision Least common but most severe</td>
 <td>Xp11.3 (RP2) Xp21 (RP3)</td>
 </tr>
 <tr>
 <td>Autosomal dominant</td>
 <td>Most common and best prognosis</td>
 <td>Rhodopsin gene at 3q Peripherin gene at 6p</td>
 </tr>
 <tr>
 <td>Lebers congenital amaurosis</td>
 <td>An autosomal recessive form of RP</td>
 <td>Null mutations in guanylate cyclase or homozygous defects of RPE 65 (this protein influences 11-cis-retinol formation)</td>
 </tr>
 <tr>
 <td>Choroideraemia&nbsp;</td>
 <td>Childhood onset Night blindness and later loss of vision Granular pigmentary changes initially, then choroidal atrophy later. Patchy non progressive equatorial pigmentary changes</td>
 <td>Xq21 locus: deletion to Rab1 gene X-linked recessive</td>
 </tr>
 <tr>
 <td>Norrie&rsquo;s disease</td>
 <td>Males affected from birth With bilateral congenital blindness Retinal dysplasia Retinal vascular changes Retinal detachment CataractDeafness and LD</td>
 <td>Xp11.1 Xp11.3</td>
 </tr>
 <tr>
 <td>Achromatopsia</td>
 <td>&nbsp;</td>
 <td>Homozygous (?recessive) defect in the cone cGMP-gated channel alpha subunit</td>
 </tr>
 <tr>
 <td>Red-green colour blindness</td>
 <td>&nbsp;</td>
 <td>X-linked recessive</td>
 </tr>
 <tr>
 <td>Blue-cone monochromatism</td>
 <td>&nbsp;</td>
 <td>X-linked recessive</td>
 </tr>
 <tr>
 <td>Retinoschisis</td>
 <td>&nbsp;</td>
 <td>X-linked</td>
 </tr>
 <tr>
 <td>Albinism</td>
 <td>Poor VA and nystagmus in children</td>
 <td>&nbsp;</td>
 </tr>
 <tr>
 <td>Oculocutaneous</td>
 <td>Tyrosinase positive group Tyrosinase negative group (severe disease): profound visual loss, photophobia, nystagmusIris transillumination, absent fundal pigmentation, absent foveal reflex Most optic nerve fibres cross at the chiasma (VEP abnormalities see above)</td>
 <td>Autosomal recessive</td>
 </tr>
 <tr>
 <td>OcularAka Nettleship-Falls albinism</td>
 <td>Most hypopigmentation confined to the ocular structures Giant melanosomes in the RPE, iris translucency, strabismus, nystagmus</td>
 <td>X-linked recessive</td>
 </tr>
 <tr>
 <td>Leber&rsquo;s hereditary optic neuropathy</td>
 <td>Males affected more than females Hyperaemic disc swelling Peripapillary telangiectasia Optic atrophy and optic nerve demyelination Visual failure: the papillomacular bundle is most severely affected</td>
 <td>Suspected mitochondrial inheritance since males cannot transmit (although this does not explain the male predominance) Involves an NADH dehydrogenase typically</td>
 </tr>
 <tr>
 <td>Kearns-Sayre syndrome</td>
 <td>Pigmentary retinopathy Progressive myopathy including cardiac muscle Progressive external ophthalmoplegia</td>
 <td>Mitochondrial inheritance Multiple point mutations</td>
 </tr>
 <tr>
 <td>Chronic progressive external ophthalmoplegia</td>
 <td>Ptosis, myopathy, depression, cataract, ketoacidosis</td>
 <td>Mitochondrial or autosomal dominant inheritance (occasionally spontaneous de novo mutation)</td>
 </tr>
 <tr>
 <td>Stargardt&rsquo;s disease</td>
 <td>Mild defects cause macular degeneration, intermediate defects cause cone-rod dystrophy, severe defects cause RP</td>
 <td>Autosomal recessive. Defects in the ATP-binding cassette (ABCA4) transporter (see above, Rim proteins). Chromosome 1p abnormality</td>
 </tr>
 <tr>
 <td>Goldmann-Favre disease</td>
 <td>Optically empty vitreous Hyperopia</td>
 <td>Autosomal recessive</td>
 </tr>
 <tr>
 <td>Homocystinuria</td>
 <td>&nbsp;</td>
 <td>Autosomal recessive</td>
 </tr>
 <tr>
 <td>Familial ectopia lentis</td>
 <td>&nbsp;</td>
 <td>Autosomal recessive</td>
 </tr>
 <tr>
 <td>Macular corneal dystrophy</td>
 <td>Least common but most severe of major stromal corneal dystrophies Grey-white opacities in stroma extending to periphery without clear spaces between</td>
 <td>Autosomal recessive</td>
 </tr>
 <tr>
 <td>Aniridia</td>
 <td>&nbsp;</td>
 <td>Autosomal dominant (1/3rd are sporadic). Deletions of PAX-6 on chromosome 11</td>
 </tr>
 <tr>
 <td>Best disease (vitelliform dystrophy)</td>
 <td>Macular degeneration involving the entire RPE layer but only damaging the macula</td>
 <td>Autosomal dominant. Heterozygous missense mutations of the bestrophin gene (BEST1) and PRPH2 (peripherin 2) gene</td>
 </tr>
 <tr>
 <td>Ehler-Danlo&rsquo;s syndrome</td>
 <td>&nbsp;</td>
 <td>Autosomal dominant</td>
 </tr>
 <tr>
 <td>Stickler&rsquo;s syndrome</td>
 <td>High myopia Retinal detachment</td>
 <td>Autosomal dominant (variable expressivity) 60% of patients have a mutation in the COL2A1 gene</td>
 </tr>
 <tr>
 <td>Marfan&rsquo;s syndrome</td>
 <td>&nbsp;</td>
 <td>Autosomal dominant: fibrillin gene on chromosome 15</td>
 </tr>
 <tr>
 <td>Myotonic dystrophy</td>
 <td>1 in 20,000 Expressionless face Frontal balding Gonadal atrophy Myotonia Cataracts Pigmentary retinopathy Cardiac arrhythmias</td>
 <td>Autosomal dominant Chromosome 19 loci Triplet expansion: demonstrates anticipation. Congenital MD is most severe</td>
 </tr>
 <tr>
 <td>NF-1</td>
 <td>Neurofibromas, optic nerve glioma</td>
 <td>Autosomal dominant Chromosome 17q</td>
 </tr>
 <tr>
 <td>NF-2</td>
 <td>Acoustic neuromas, gliomas, meningiomas</td>
 <td>Autosomal dominant Chromosome 22q</td>
 </tr>
 <tr>
 <td>Von Hippel-Lindau</td>
 <td>Retinal angiomata Cerebellar haemangioblastoma</td>
 <td>Autosomal dominant Chromosome 3 (VHL gene)</td>
 </tr>
 <tr>
 <td>Tuberous sclerosis</td>
 <td>Fundal astrocytomas&nbsp;</td>
 <td>Autosomal dominant Chromosome 9q and 16p (TSC1 and TSC2 genes)</td>
 </tr>
 <tr>
 <td>Gorlin-Goltz syndrome</td>
 <td>Early development of multiple BCCs. Benign jaw tumours, rib and vertebral abnormalities, intracranial calcification, ovarian and cardiac fibromas</td>
 <td>Autosomal dominant Chromosome 9 PTCH1 gene: produces patched-1 protein which interacts with sonic hedgehog during development</td>
 </tr>
 <tr>
 <td>Retinoblastoma</td>
 <td>&nbsp;</td>
 <td>13q14 (chromosome 13) Appears autosomal dominant but both alleles need to be affected Majority of bilateral and unilateral cases are actually sporadic</td>
 </tr>
 <tr>
 <td>Turner&rsquo;s syndrome</td>
 <td>Short stature Hypertension&nbsp;&nbsp; Eyelid pigmentation Epicanthic folds Cataract&nbsp; Ptosis Strabismus Nystagmus&nbsp;</td>
 <td>45, X0 Non-dysjunction is usually paternal (ie. occurs in the spermatozoon)</td>
 </tr>
 <tr>
 <td>Klinefelter&rsquo;s syndrome</td>
 <td>Tall Bilateral gynaecomastia (breast ca risk) Infertility, hypogonadism&nbsp;</td>
 <td>Non-dysjunction during meiosis I47 XXY 47 XXXYY 47, XXYY</td>
 </tr>
 </tbody>
 </table>
 </div>

Genetics

Genetics Of Ocular Conditions

Intro

FRCOphth Part 1 Study Notes

Orbit and ocular adnexae

Orbit

Extraocular Muscles

Orbital Blood Vessels

Paranasal Sinuses

Lacrimal Glands

Tear Film

Eyelids

Blinking

Anterior segment - ocular surface

Conjunctiva

Conjunctivitis

Sclera

Cornea

Corneal Structure And Development

Corneal Physiology

AC to Lens

Angle

Ciliary Body

Aqueous Humour Dynamics

Iris

Pupil

Lens

Posterior segment

Choroid

Vitreous

Retinal Macrostructure

Neurosensory Retina

Retinal Pigment Epithelium

Neuroanatomy

Venous Sinuses

Cerebral Ventricles

Cerebral Blood Supply

Supranuclear Gaze Pathways

Head And Neck Autonomic Nervous Supply

Head And Neck Glands

Osteology

Nerves

Muscles And Pharyngeal Arches

Extraocular Nerves

Sensory Nerves

Physiology

Physics Of Blood Flow

Neuronal Control Of Blood Vessels

Oxygen-Haemoglobin Dissociation Curve

Cytochrome p450

Pituitary Gland

Thyroid Hormone Production

Insulin

Glucagon

Parathyroid Hormone

Corticosteroids

Catecholamines

Cardiac Cycle

Renal Physiology

Fluid Balance

Acid-Base Balance

Muscle Physiology

Sensory Fibres

Cutaneous Receptors

Endocytosis

Glycosaminoglycans

Condensed Ocular Biochemistry

Eye Movements

Accomodation

Vision

Visual Cycle And Phototransuction

Visual Pathway

Visual Acuity

Colour Vision

Binocular Vision

Pathology

Collagen

Tissue Damage

Inflammation

Disease Entities

Wound Healing

Thrombosis / Atherosclerosis

Cell Growth

Neoplasia

Histopathology

Nystagmus

Free Radicals And Antioxidants

Immunology

Ocular Immunology

Microbiology

Viral Infections

Bacterial Infections

Fungal Infections

Protozoa

Nematodes

Antimicrobials

Chromosomes

Mitosis

Meiosis

Genes

Polypeptide Synthesis

Histones

MicroRNA

Hardy-Weinberg Equilibrium

Mutations

Chromosome Defects

Autosomal Inheritance

X-Linked Inheritance

Mitochondrial Inheritance

Multifactorial Inheritance