Brittle cornea, a form of Ehlers-Danlos syndrome, is a genetic disease which is caused by connective tissue changes in joints, skin, ears and eyes. Collagen is the most common protein in the human body and is responsible for holding connective tissue together. Brittle cornea syndrome is characterised by extreme thinning and increased fragility of the outer layer of the eye (cornea) which may lead to tearing or rupture with just minor injury, which can progress to blindness. People with Brittle cornea syndrome may also experience hearing loss, hip dysplasia, and joint hypermobility.
The symptoms of Brittle cornea syndrome can vary, even among affected family members. The onset of symptoms can occur as early as two years of age. The most common symptom associated with Brittle cornea syndrome is thinning of the cornea often resulting in tearing. The corneal thinning, sometimes referred to as keratoconus, often gets worse over time. Some people may experience scarring of the cornea where tears or ruptures have occurred, affecting their visual field. Other eye symptoms include a blue tint to the sclera (outer white part of the eye), myopia (nearsightedness), and retinal detachment.
Brittle cornea syndrome is a genetic condition. Two types of Brittle cornea syndrome are well described. Type 1 Brittle cornea syndrome is caused by genetic changes, called mutations, in the ZNF469 gene. Type 2 Brittle cornea syndrome is caused by mutations in the PRDM5 gene.
Brittle cornea syndrome is inherited in an autosomal recessive manner. In this case, two copies of the disease causing gene need to be present, one of each are passed on by a mother and a father. It is possible that both parents do not have the condition themselves, but instead are carriers of the disease causing gene. More information on genetic inheritance patterns can be found here
or contact the Fighting Blindness research department on 01 6789004 or e-mail email@example.com.
Brittle cornea syndrome is diagnosed through a number of tests which are important for providing the correct diagnosis. These assessments will look at different symptoms such as motility and skin symptoms.
The eye doctor will ask about a person’s medical history, including any family history of eye conditions. Individuals will receive a clinical eye examination where they may be asked to read letters off a chart (Snellen chart). They may also check intraocular pressure and examine visual field and visual acuity.
An individual may receive a number of imaging tests. Optical coherence tomography (OCT) can also be used to assess the central corneal thickness which is commonly thinner accompanied by relative preservation of peripheral corneal thickness.
As Brittle cornea syndrome is a genetic condition, a genetic test is also important to ensure the correct condition is diagnosed. In Ireland, this can be performed through the Target 5000
It’s often impossible to tell which type of ocular condition a person has just by looking into the eye. As such, a genetic test may be necessary to confirm the diagnosis.
The Target 5000 programme provides free genetic and clinical testing to all individuals living in Ireland with a genetic retinal degeneration, including BCM. Through genetic screening of the person awaiting diagnosis and their family members, the Target 5000 programme will provide more detailed information about the nature and inheritance pattern of the condition.
As gene-specific clinical trials and treatments become available, knowing the genetic mutation associated with a genetic retinal degeneration will become even more important. Taking part in this programme ensures participants are included on a national registry from which participants can be identified for clinical trials and treatments and from which further information about each of the genetic retinal degenerations can be defined. For further information on the Target 5000 programme, please contact the Research Department on 01 6789004 or email firstname.lastname@example.org.
At present, there is no treatment available for Brittle cornea syndrome, however there are significant research efforts underway which aim to change this. To find out more about these advances, please visit the ‘Latest Research
Whilst there are no current treatments, certain protective measures could be taken to help prevent damage to the cornea, for example, use of special protective glasses. In instances where individuals have serious thinning or scarring of the cornea, a corneal transplant or corneal graft might be attempted. Corneal cross-linking (minimally invasive procedure to strengthen and stabilize the collagen fibres found in the cornea) may also be another method of treating thinning corneas. Other symptoms such as hearing loss, nearsightedness, and retinal detachment are managed similarly to people with these concerns in the general population.
General eye check-ups are important for people living with BCM, as these individuals may still be at risk of developing other kinds of eye problems that affect the general population, some of which may be treatable.
No matter what level of vision a person may have, it is important to look after the eyes. To find out more about what can be done to take care of the eyes on a daily basis, please visit our Tips for Good Eye Health
For further information, please contact the Research Department on 01 6789004 or email email@example.com.
Great advances have been made with respect to understanding this condition, with much progress being made to develop therapies for it.
Promising research exists with an aim to develop treatments for Brittle cornea syndrome, with a major focus on gene therapies. These gene therapies aim to deliver a “normal” copy of the gene which is mutated in this condition into the retina. As two genes are associated with the condition, ZNF469 (Type 1) and PRDM5 (Type 2), it makes this condition particularly suitable for gene therapy and a number of research efforts are investigating this.
More information can be found on the clinical trials website
where you can search by condition and location.
Target 5000 research, largely funded by Fighting Blindness aims to determine the genetic cause and understand the nature of the condition over time. Through Target 5000, a national registry will also be developed which will greatly improve access to suitable clinical trials and treatments for people living in Ireland with BCM. For further information, please contact the Research Department on 01 6789004 or e-mail firstname.lastname@example.org
A study conducted by Professor Breandán Kennedy
is investigating a group of neuroprotective drugs, known as HDAC inhibitors, for their potential to delay vision loss in retinal degenerations. This work seeks to identify new therapeutics which could provide significant benefit to individuals.
To find out more about these studies, please contact the Research Department on 01 6789004 or e-mail email@example.com
Receiving a diagnosis can be overwhelming for anyone, but this is not a journey that you have to make alone. There are many groups and resources available to provide support for people living with Stargardt Disease.
Fighting Blindness offers a free and confidential counselling service (Insight Counselling). For further information please contact firstname.lastname@example.org
or call 01 6746496.
We also offer support groups for people with a visual impairment to share their feelings and experiences with others facing the same challenges. Please consult the support groups section of our website here
to access the latest timings and days for the various support groups we offer.
For further information please contact email@example.com
or call 01 6746496.
provides support for parents of children living with sight loss in Ireland.
is the national education centre for children with sight loss in Ireland.
Vision Ireland, formerly NCBI
(National Council for the Blind in Ireland) provides support and services for people living with sight loss in Ireland.
Irish Guide Dogs for the blind
helps individuals and their families to achieve improved mobility and independence.
Ugonjwa wa cornea ya Ehlers-Danlos ni ugonjwa wa chembe za urithi unaosababishwa na mabadiliko ya tishu ya kuunganisha katika viungo, ngozi, masikio na macho. Collagen ni protini ya kawaida katika mwili wa binadamu na ni wajibu wa kushikilia tishu ya kuunganisha pamoja. Ugonjwa wa cornea ya brittle una sifa ya kupungua kwa kiasi kikubwa na kuongezeka kwa udhaifu wa tabaka la nje la jicho (cornea), ambayo inaweza kusababisha kupasuka au kuvunjika kwa jeraha dogo tu, ambalo linaweza kuendelea na upofu. Watu walio na ugonjwa wa kornea dhaifu wanaweza pia kupatwa na upotezaji wa kusikia, dysplasia ya kiuno, na mwendo wa chini wa viungo. Dalili za ugonjwa wa kornea dhaifu zaweza kutofautiana, hata miongoni mwa washiriki wa familia walioathiriwa. Dalili za ugonjwa huo zaweza kutokea mapema sana katika umri wa miaka miwili. Dalili ya kawaida inayohusiana na ugonjwa wa kornea dhaifu ni kupungua kwa kornea ambayo mara nyingi husababisha kupasuka. Kupungua kwa pembe za pembe, ambayo nyakati nyingine huitwa keratoconus, mara nyingi huendelea kuwa mbaya zaidi kadiri wakati unavyopita. Watu fulani wanaweza kupata makovu ya kornea ambapo machozi au kuvunjika kumetokea, na hivyo kuathiri uwezo wao wa kuona. Dalili nyingine za jicho zinatia ndani rangi ya bluu kwenye sclera (sehemu nyeupe ya nje ya jicho), myopia (kuona mbali), na kuondolewa kwa retina. Ugonjwa wa cornea dhaifu ni ugonjwa wa urithi. Aina mbili za ugonjwa wa Brittle cornea zinaelezwa vizuri. Ugonjwa wa aina ya 1 unaitwa brittle cornea syndrome na unatokana na mabadiliko ya chembe za urithi (mutations) katika chembe ya urithi ya ZNF469. Ugonjwa wa aina ya 2 unaitwa brittle cornea syndrome, unaosababishwa na mabadiliko ya chembe za urithi za PRDM5 na PRDM2. Ugonjwa wa cornea dhaifu husababishwa na urithi wa autosomal recessive. Katika hali hii, nakala mbili za jeni inayosababisha ugonjwa zinahitaji kuwapo, moja ya kila moja hupitishwa na mama na baba. Inawezekana kwamba wazazi wote wawili hawana ugonjwa huo, lakini badala yake ni wabebaji wa jeni linalosababisha ugonjwa huo. Kwa maelezo zaidi kuhusu jinsi ya kuhifadhi na kuhifadhi, wasiliana na Kituo cha Utafiti wa Uso wa Kibinadamu (FBC) kwa simu 011-008-820-011 au kwa barua pepe: www.fb.org. Ugonjwa wa cornea dhaifu hugunduliwa kupitia vipimo kadhaa ambavyo ni muhimu kwa kutoa utambuzi sahihi. Tathmini hizi zitaangalia dalili tofauti kama vile motility na dalili za ngozi. Daktari wa macho atauliza juu ya historia ya matibabu ya mtu, ikiwa ni pamoja na historia yoyote ya familia ya hali za macho. Watu binafsi watapokea uchunguzi wa kliniki wa jicho ambapo wanaweza kuombwa kusoma herufi kutoka kwa chati (chati ya Snellen). Wanaweza pia kuchunguza shinikizo la ndani ya jicho na kuchunguza uwanja wa kuona na uwezo wa kuona. Mtu mmoja-mmoja aweza kufanyiwa uchunguzi mbalimbali wa picha. Optical Coherence Tomography (OCT) ni njia ya uchunguzi wa kina ya cornea ya kati, ambayo ni ya kawaida ya nyembamba zaidi na inaonekana kuwa imedumu kwa muda mrefu. Kwa kuwa ugonjwa wa cornea ya brittle ni hali ya urithi, uchunguzi wa urithi pia ni muhimu ili kuhakikisha kwamba ugonjwa huo umegunduliwa kwa usahihi. Katika Ireland, hii inaweza kufanyika kupitia Lengo 5000, mara nyingi haiwezekani kujua ni aina gani ya hali ya jicho mtu ana tu kwa kuangalia ndani ya jicho. Kwa hiyo, huenda ikawa lazima kufanya uchunguzi wa maumbile ili kuthibitisha utambuzi huo. Programu ya Target 5000 inatoa vipimo vya bure vya maumbile na kliniki kwa watu wote wanaoishi Ireland na degeneration ya retina ya maumbile, ikiwa ni pamoja na BCM. Kwa njia ya uchunguzi wa maumbile ya mtu anayesubiri kugundua ugonjwa huo na wanafamilia wake, mpango wa Target 5000 utatoa habari zaidi kuhusu asili na muundo wa urithi wa ugonjwa huo. Kwa kuwa majaribio ya kliniki na matibabu ya jeni hususa yanapatikana, kujua mabadiliko ya maumbile yanayohusiana na degeneration ya retina ya maumbile itakuwa muhimu zaidi. Kujiunga na programu hii inahakikisha washiriki ni kuingizwa katika usajili wa kitaifa kutoka ambayo washiriki inaweza kutambuliwa kwa ajili ya majaribio ya kliniki na matibabu na kutoka ambayo habari zaidi kuhusu kila moja ya degenerations retinal urithi inaweza kufafanuliwa. Kwa maelezo zaidi kuhusu mpango wa Target 5000, tafadhali wasiliana na Idara ya Utafiti kwenye 01 6789004 au barua pepe ya kwanza. Kwa sasa, hakuna matibabu ya ugonjwa wa Brittle cornea, lakini kuna juhudi kubwa za utafiti zinazoendelea ambazo zinakusudia kubadilisha hii. Kwa maelezo zaidi, tafadhali tembelea tovuti ya utafiti wa hivi karibuni: Ingawa hakuna matibabu ya sasa, hatua fulani za kinga zinaweza kuchukuliwa ili kusaidia kuzuia uharibifu wa cornea, kwa mfano, matumizi ya miwani maalum ya kinga. Katika visa ambapo watu wana thinning kali au makovu ya cornea, kupandikiza cornea au corneal graft inaweza kujaribu. Uunganisho wa msalaba wa cornea (taratibu ya uvamizi mdogo ili kuimarisha na kutuliza nyuzi za collagen zinazopatikana katika cornea) pia inaweza kuwa njia nyingine ya kutibu corneas nyembamba. Dalili nyingine kama vile kupoteza kusikia, upungufu wa kuona, na kutenganishwa kwa retina zinashughulikiwa kwa njia sawa na watu walio na wasiwasi huu katika idadi ya watu kwa ujumla. Uchunguzi wa macho ni muhimu kwa watu wanaoishi na BCM, kwani watu hawa wanaweza kuwa na hatari ya kuendeleza aina nyingine za matatizo ya macho ambayo huathiri idadi ya watu kwa ujumla, ambayo baadhi yao yanaweza kutibiwa. Haijalishi mtu ana uwezo gani wa kuona, ni muhimu kutunza macho yake. Kwa maelezo zaidi kuhusu jinsi ya kuhifadhi na kuhifadhi data yako ya kila siku, tafadhali tembelea tovuti yetu ya Utafiti wa Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho ya Macho. Maendeleo makubwa yamefanywa kuhusiana na kuelewa hali hii, na maendeleo mengi yamefanywa ili kuendeleza matibabu kwa ajili yake. Utafiti wenye kuahidi upo na lengo la kuendeleza matibabu ya ugonjwa wa Brittle cornea, na kuzingatia sana tiba za jeni. Matibabu haya ya jeni yana lengo la kutoa nakala ya "kawaida" ya jeni ambayo imebadilika katika hali hii kwenye retina. Kuna jeni mbili zinazohusiana na hali hii, ZNF469 (aina ya 1) na PRDM5 (aina ya 2), ambayo hufanya hali hii kuwa bora kwa tiba ya jeni na juhudi kadhaa za utafiti zinachunguza hii. Maelezo zaidi yanaweza kupatikana kwenye tovuti ya majaribio ya kliniki ambapo unaweza kutafuta kwa hali na eneo. Utafiti wa Target 5000, unaofadhiliwa kwa kiasi kikubwa na Fighting Blindness, unakusudia kuamua sababu ya maumbile na kuelewa asili ya hali hiyo kwa muda. Kwa njia ya lengo la 5000, usajili wa kitaifa utaanzishwa, ambayo itaboresha sana upatikanaji wa majaribio ya kliniki na matibabu ya watu wanaoishi Ireland na BCM. Kwa maelezo zaidi, tafadhali wasiliana na Idara ya Utafiti kwenye 01 67894 au barua pepe ya kwanza. lastname@example.org Utafiti uliofanywa na Profesa Brendan Kennedy unachunguza kundi la dawa za neuroprotective, inayojulikana kama HDAC inhibitors, kwa uwezo wao wa kuchelewesha upotezaji wa maono katika degenerations ya retina. Kazi hii inatafuta kutambua matibabu mapya ambayo yanaweza kutoa faida kubwa kwa watu binafsi. Kwa maelezo zaidi, tafadhali wasiliana na Idara ya Utafiti kwenye 01 6789004 au barua pepe ya barua pepe @example.com Kupokea utambuzi wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa wa ugonjwa. Kuna vikundi vingi na rasilimali zinazopatikana ili kutoa msaada kwa watu wanaoishi na ugonjwa wa Stargardt. Kupigana Upofu inatoa huduma ya ushauri wa bure na ya siri (Insight Counselling). Kwa maelezo zaidi tafadhali wasiliana na jina la kwanza, jina la mwisho, na mfano au piga simu 0167646 Pia tunaandaa vikundi vya msaada kwa watu wenye ulemavu wa kuona ili kushiriki hisia zao na uzoefu wao na wengine wanaokabili changamoto sawa. Tafadhali angalia sehemu ya vikundi vya msaada kwenye tovuti yetu hapa ili kupata nyakati na siku za hivi karibuni kwa vikundi mbalimbali vya msaada tunavyotoa. Kwa maelezo zaidi, tafadhali wasiliana na E-mail@example.com au piga simu 0167-4646 na kupata msaada wa msaada wa wazazi wa watoto wenye matatizo ya kuona nchini Ireland. Ni kituo cha kitaifa cha elimu kwa ajili ya watoto wenye upofu wa macho nchini Ireland. Vision Ireland (Kabla ya NCBI) ni shirika la Ireland linalohusiana na uelewa wa watu walio na matatizo ya kuona. Mbwa wa mwongozo wa Ireland kwa vipofu husaidia watu binafsi na familia zao kufikia kuboresha mwendo na kujitegemea.