In the Clinical and Research Center of Neuro-ophthalmology, Genetic and Rare Diseases, directed by  Prof. Parisi Vincenzo ,  patients suffering from neuro-ophthalmological pathologies or from genetic or rare diseases involving the retina and/or the optic nerve are taken in charge, through specific diagnostic and therapeutic care pathways.

DEFINITION 

Neuro-ophthalmology is the branch of ophthalmology that deals with the study of visual function linked to pathologies that can involve various brain structures that, forming the visual nervous system (Optic Nerve, Optic Chiasm, Optic Tract, Lateral Geniculate Nucleus, Optic Radiation, Occipital Cerebral Cortex), are responsible for the transmission and decoding of visual information.

PATHOLOGIES

In this context, particular interest is given to pathologies of the optic nerve,  which may be due to Diabetes, Glaucoma, demyelinating pathologies (Multiple Sclerosis), ischemic phenomena, toxic or iatrogenic processes, infectious processes, autoimmune pathologies (LES, Rheumatoid arthritis), Hyperthyroidism and Hypothyroidism, neurodegenerative pathologies (Hereditary degenerative ataxias, Alzheimer's disease, Parkinson's disease), neoplastic processes, traumas. In addition, many optic nerve diseases are due to genetic mutations such as Leber Optic Neuropathy or Dominant or Recessive Hereditary Optic Neuritis.

Neuro-ophthalmological  pathologies  manifest  themselves with a progressive or acute loss of visual acuity, with deficit of the visual field, with modifications of chromatic perception or contrasts.

Other diseases of the Central Nervous System such as Migraine (with or without visual aura), T.I.A., Stroke, Cerebral Infarctions, neoplastic diseases, head trauma, can induce deficits in visual perception or specific losses of part of the visual field. In this case, the diagnostic framework is completely like that of neuropathies, while as far as therapy is concerned, this is linked to the underlying pathology.

In addition, various pathologies that recognize an inflammatory, vascular, neoplastic or toxic, metabolic etiology, can induce other dysfunctions of the visual system not necessarily associated with changes in visual perception such as diplopia (paralytic strabismus), accommodative insufficiency, ptosis or pupillary diameter abnormalities. Also in this case the diagnostic framework is completely similar to that of neuropathies and the therapy is related to the underlying pathology.

Genetic and rare diseases are characterized by a deficit of visual perception due to a dysfunction of the different retinal elements (cones, rods, ganglion cells) that can be associated with changes in the transmission of the nerve impulse between the retina and brain structures. This group includes inherited retinal dystrophies including Stargardt Disease, Best Disease, retinitis pigmentosa, achromatopsia, Leber's congenital amaurosis, juvenile retinoschisis, and many other rare and degenerative diseases.

Symptomatology is characterized by reduced visual acuity, visual field defects, difficulty adapting to light, night blindness, color vision deficiency.

DIAGNOSTIC AND THERAPEUTIC ACTIVITIES

Both with regard to neuro-ophthalmological pathologies and genetic and rare pathologies, in order to correctly diagnose, an accurate medical history, a correct evaluation of visual acuity, the study of ocular motility, the examination of the visual field, functional evaluation exams of the various  structures of the visual nervous system (ERG, PERG, F-ERG, mfERG, PEV), evaluation of the morphology of retinal ganglion cells and their fibers that form in the optic nerve (evaluable through OCT, autofluorescence and retinography) are necessary.

To complete the diagnosis, for neuro-ophthalmological diseases, a targeted neuroradiological diagnosis and specific advice from neurologist colleagues may be required. For genetic and rare diseases, family genetic counseling may also be carried out for the identification of genetic anomalies with salivary or blood tests.

In the case of neuro-ophthalmological pathologies the therapy must be established as early as possible, and it is mainly based on cortisone drugs or neuroenhancement drugs (eg Citicoline).

In the case of genetic and rare diseases of the retina, there is currently no specific therapy except for the complications of the disease. Our approach is to carry out a therapy of food supplements, set the treatment of complications such as macular edema, cataracts, retinal detachment etc. and to indicate the low vision aids. Particularly useful is the prescription of lenses that filter the light intensity and suggestions for visual rehabilitation. Experimental gene therapy clinical trials will be initiated soon to which eligible patients can apply.

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