China
Africa
Explore chapters and articles related to this topic
Inherited Optic Neuropathies
Published in Vivek Lal, A Clinical Approach to Neuro-Ophthalmic Disorders, 2023
Hui-Chen Cheng, Jared Ching, An-Guor Wang, Patrick Yu-Wai-Man
Patients with inherited optic neuropathies tend to present with bilateral, usually symmetrical, visual loss. The onset of visual deterioration can be subacute or insidious and the age of onset varies depending on the underlying cause. In severe and early-onset cases, patients can also develop nystagmus (3). Sequential visual loss is more commonly observed in patients with Leber hereditary optic neuropathy (LHON). In the initial stages of investigation, it is important to exclude other causes of a bilateral simultaneous or sequential optic neuropathy (3). Neuroimaging, for example, may be indicated to exclude compressive, infiltrative or inflammatory pathologies affecting the anterior visual pathway (4). Another important group to consider in the differential diagnosis is a primary retinal dystrophy masquerading as an optic neuropathy since the retinal findings may be subtle with more attention being paid to the coexisting pallor of the optic disc (3). Visual electrodiagnostic testing can be helpful in these cases to help distinguish retinal dystrophies from optic neuropathies (3, 4).
Clinical Perspectives on Gene Therapy for Retinal and Eye Diseases
Published in Yashwant Pathak, Gene Delivery, 2022
Devika S. Joshi, Gaurav M. Karve, Shrikant D. Joshi
Retinitis pigmentosa, also known as hereditary retinal dystrophy is a group of retinal disorders causing progressive loss of vision due to pigmentary changes in the retinal pigment epithelial layer. It exists in syndromic (occurring in association with systemic disorders, e.g., Usher’s syndrome) and non-syndromic forms. Historically, it has been an untreatable disease, but newer scientific advances like gene therapy, retinal implants, etc., have allowed good improvement in vision.
Mevalonic aciduria
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Cataracts were observed in a number of patients [11, 16]. Two others [6] developed uveitis and retinitis pigmentosa, which became worse with crises. Retinal dystrophy may take the form of bone-spicule retinitis pigmentosa or may be more subtle, thinned vessels and uneven retinal surface and abnormal electroretinogram, and there may be optic atrophy [7].
High myopia and vitreal veils in a patient with Poretti– Boltshauser syndrome due to a novel homozygous LAMA1 mutation
Published in Ophthalmic Genetics, 2022
Nawid Faizi, Ingele Casteels, Bruno Termote, Paul Coucke, Elfride De Baere, Marieke De Bruyne, Irina Balikova
Here, we describe a young girl with PTBHS presenting with abnormal visual contact, high myopia, and strabismus. The most common ocular finding described in PBTHS is a high myopia. The retina is described as having myopic changes and in some patients with signs of retinal dystrophy (1,13). Two cases, described by Marlow et al., are presented with FEVR-like vasculopathy (3). Our patient had a pale and thin retina, including areas of pigment mottling. She also had vitreous veils. This feature has been previously described as Wagner syndrome, a vitreo-retinopathy. This can possibly indicate a role of LAMA1 in the formation of the vitreous, which was also confirmed by a mouse model. In this model, a homozygous missense mutation in Lama1 showed weakening of the inner limiting membrane, thinning and loss of cells in different retinal layers, an abnormal migration of cells into the vitreous, and persistence of hyaloid vasculature. A Lama1 null mutant was generated as well and exhibited even more severe vitreoretinal findings (7). In our case, a co-existing retinal dystrophy was not confirmed since the flash ERG was within normal limits and improved when repeated at the age of 7. However, a later onset of a retinal dystrophy cannot be excluded.
Current Stem-Cell Approaches for the Treatment of Inherited Retinal Degenerations
Published in Seminars in Ophthalmology, 2019
Stem cells hold promise as a potential therapeutic option to replace lost cell populations in degenerated neural tissue. This remains an unmet need for the inherited retinal degeneration patient, given that by the time many patients with retinal degenerative disease present to a specialist that could initiate future therapies, many have already undergone significant atrophy of the outer retinal layers. As such, stem-cell therapy probably occupies a therapeutic space between gene therapy (for earlier stages of disease) and retinal microchips (for more advanced disease). One of the difficulties inherent in treating advanced inherited retinal dystrophy is that most of these conditions affect the entire retina (i.e. retinitis pigmentosa [RP], Leber congenital amaurosis, cone-rod dystrophy), and over time, the degeneration of the retina leads to secondary atrophy of the inner retina and optic nerve.1 In later disease, no matter the ability of stem cells to integrate into to the remaining retina, the preexisting damage to the ganglion cell axons might place significant limits on the extent to which a retinal-based stem-cell approach will benefit a patient’s vision. Therefore, retinal stem-cell approaches currently seem more pragmatic for patients demonstrating some level of useful ganglion cell reserve.
A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris
Published in Ophthalmic Genetics, 2020
J. Cehajic-Kapetanovic, K. M. Jasani, M. Shanks, P. Clouston, R. E. MacLaren
Currently, there is no cure for RPB4-related retinal dystrophy. Certain manifestations of vitamin A deficiency can be easily treated with supplementation, giving rise to the idea of treating the retinopathy with oral isotretinoin. However, in experimental models exogenously supplied retinyl esters cannot be taken up by cultured RPE cells due to the lack of RBP-retinol-transthyretin complexes (17). Retinoic acid given as a substitute for retinol in vitamin A deficient rats did not prevent retinal and RPE degeneration, whereas other tissue (with the exception of reproductive tissues) do accept it (18). High doses of vitamin A are more likely to cause systemic side effects than be useful.