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2024
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Genetic testing for inherited eye diseases
Regarding hereditary eye diseases
Hereditary eye disease, also known as eye genetic disease, is an eye disease caused by genetic defects, accounting for 10% to 15% of all known genetic diseases (7000 types). There are about 600 types of hereditary eye diseases, including over 200 diseases with only eye symptoms, and over 400 syndromes with systemic or other inherited diseases manifested in the eyes. Commonly seen in clinical practiceHereditary eye diseaseThere are conditions such as retinitis pigmentosa, cone or rod cell malnutrition, macular malnutrition, hereditary optic neuropathy, corneal degeneration, lens disease, vitreoretinopathy, choroidal dystrophy, ocular muscle disease, ocular tumors, microphthalmia, and ocular tissue loss.Genetic diversity，Including autosomal dominant inheritance, autosomal recessive inheritance, X-linked inheritance, polygenic inheritance, and mitochondrial inheritance. In addition, hereditary eye diseases often haveClinical heterogeneity, genetic heterogeneityCharacteristics,The symptoms are complex, diverse, and overlapping; There are significant differences in genetic variations and phenotypes among different regions and ethnic groups. These factors pose significant challenges to the clinical diagnosis of hereditary eye diseases, which are prone to misdiagnosis or even missed diagnosis, and require precise diagnosis through genetic testing technology.
Common hereditary retinal diseases
Crystalline retinitis pigmentosa (BCD)
Crystalline retinal degeneration (BCD) is a hereditary retinal degenerative disease, in which patients typically experience night blindness at the age of 20-30. As the condition progresses, central visual acuity gradually decreases (by an average of 4.5 letters per year, equivalent to one line on a visual acuity chart), and most patients become legally blind around the age of 40 due to severe visual impairment and reduced field of vision. The global incidence rate of BCD is 1/57600, which is more common in East Asia, and the incidence rate of BCD in China is about 1/25000. BCD is inherited in an autosomal recessive manner, caused by mutations in the CYP4V2 gene. The CYP4V2 gene encodes an omega-3 polyunsaturated medium chain fatty acid hydroxylase, which is highly expressed in retinal pigment epithelial cells (RPE) and participates in fatty acid metabolism. The mutation of CYP4V2 gene leads to abnormal lipid metabolism in RPE, which in turn causes degeneration and apoptosis of photoreceptor cells. At present, there is no effective treatment for BCD within the industry, and there is an urgent clinical need. Zhongyin Technology has developed ZVs101e injection for gene therapy of this disease.
Leber's Hereditary Optic Neuropathy
Leber hereditary optic neuropathy is a maternal inherited degeneration of retinal ganglion cells caused by mitochondrial DNA mutations. The onset age is usually between 15 and 35 years old, and the incidence rate of male is much higher than that of female. Clinical symptoms usually manifest as acute or subacute, painless central visual acuity decline, with patients' vision often dropping to 0.1 or below within a few weeks, often accompanied by varying degrees of color vision impairment.
Cone rod cell malnutrition (CRD)
Cone rod cell malnutrition begins in childhood and differs from other hereditary retinal diseases in the order in which retinal photoreceptor cells undergo degeneration - first cone cell loss, then rod cell loss. Patients often first lose color vision and central vision, and then gradually lose peripheral (or lateral) vision.
Stargardt's disease (STGD)
Stargardt disease, also known as Stargardt macular degeneration, is a common type of macular degeneration in adolescents. Stargardt's disease usually occurs in childhood or early adulthood and is caused by macular degeneration. Patients typically experience a gradual loss of central vision and may also experience difficulties with night vision or color vision, often due to progressive decline in adolescent vision, color vision abnormalities, and central dark spots that attract attention.
Choroidal absence syndrome (CHM)
Choroidal disorders are X-linked recessive inherited retinal degenerative diseases. It mainly affects males and begins in childhood, manifested as progressive worsening of night blindness, narrowing of vision, and central visual impairment. In severe cases, blindness can occur in middle age. Night blindness (also known as night blindness) is often the first symptom, followed by a narrowed field of vision, and later a loss of central vision.
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Project Introduction
Based on years of clinical research and case accumulation in ophthalmic genetic diseases, Zhongyin Medicine has developed a genetic eye disease gene diagnosis panel for high-throughput sequencing of target sequences, which comprehensively covers more than 1000 pathogenic genes of ophthalmic genetic diseases and continuously iterates with cutting-edge advances. In the new generation of panels, common intron region mutations (such as USH2A gene and ABCA4 gene) have been added to compensate for the shortcomings of conventional exon capture sequencing. This is supplemented by personalized first generation sequencing of specific gene structural regions based on patient symptoms (which cannot be detected by second-generation sequencing), combined with self-developed bioinformatics analysis software and processes, as well as CNV prediction and exon incompleteness analysis, to comprehensively improve detection rates. Used for auxiliary diagnosis, differential diagnosis, and prenatal screening guidance of ophthalmic genetic diseases.
Patient benefits
Disease diagnosis：
There are over 600 genetic eye diseases in ophthalmology, which are an extremely complex group of diseases. In recent years, expert consensus has been established that genetic diseases in ophthalmology should be diagnosed based on genetic testing results to avoid misdiagnosis and mistreatment.
Gene therapy：
Gene therapy has shown the dawn of cure for patients with ophthalmic genetic diseases. The determination of the patient's mutated genes and mutation sites through genetic testing is a prerequisite for gene therapy, and the earlier the diagnosis, the better the treatment effect.
Disease Management and Prevention and Control：
Some genetic eye diseases can be prevented from causing blindness or delaying disease progression through prevention and control measures in early diagnosis. For genetic eye diseases that are expected to cause blindness at a specific age, early diagnosis can help to reserve life skills in advance and choose suitable careers.
Fertility guidance：
Most patients with inherited eye diseases can achieve their desire to have a healthy next generation through early prenatal diagnosis or third-generation IVF technology under the guidance of genetic testing.
Project advantages
High level of professionalism
Frontline genetic disease experts participate in the design of testing panels, focusing on in-depth ophthalmic genetic disease testing; The team has accumulated years of basic research, clinical cases, and databases on ophthalmic genetic diseases; Gene testing from the perspective of gene therapy for ophthalmic genetic diseases.
High coverage
The panel design comprehensively covers the gene exon regions related to ophthalmic diseases; Supplementing probes for intronic regions with pathogenic variations in specific genes; A first generation sequencing plus testing scheme for special structural regions with pathogenic variations in individual genes that cannot be detected by second-generation sequencing; CNV prediction analysis based on panel captured sequencing data; Specialized penetrant incomplete analysis of dozens of genes to comprehensively improve the detection rate of genetic eye diseases.
Fertility risk assessment and recommendations
The testing report evaluates the genetic risk of patients and provides risk warnings for third-generation in vitro fertilization (PGT).
Project Process
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CHIGENOVO Co., Ltd. is an ophthalmic gene therapy company, a national high-tech enterprise focusing on genetic diagnosis of genetic eye diseases and the development of gene therapy drugs. It is committed to providing "one-stop" services for patients with genetic eye diseases.
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