Punctate inner choroidopathy (PIC) is an inflammatory eye condition.¹ It is characterised by the presence of multiple yellow-white lesions in the posterior pole of the eye and no other signs of inflammation in the rest of the eye.^2-5 These yellow-white lesions are small, round and well-defined, and are found specifically at the level of the retinal pigment epithelium and inner choroid (part of the vascular layer) of the eye. PIC can affect either one, or both eyes.

PIC commonly affects younger females that are near-sighted (myopic or have trouble seeing objects from a distance).^2-5 The disease course and severity of PIC may vary between individuals. In some cases, the condition can resolve spontaneously whilst in other cases there may be complications resulting in permanent loss of vision.^2,3

Synonym: Punctate inner choroiditis.⁶

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:580951 Punctate inner choroidopathy

ICD-11: 9B65.0 Noninfectious posterior uveitis

Common symptoms of PIC include:^1-5

• blurred vision
• photopsia – perceived flashes of light
• scotomas – blind spots in vision
• floaters
• photophobia – sensitivity to light
• metamorphopsia – distorted vision, causing objects with straight lines to appear curved

Some individuals also experience loss of peripheral vision and are unable to see out of the corners of their eyes.^2-3 PIC can affect one eye (unilateral) or both eyes (bilateral).

Symptoms of PIC may resolve spontaneously.² There can also be complications associated with PIC, such as growth of abnormal blood vessels in the choroid (choroidal neovascularization, CNV) and formation of scar tissue beneath the retina (subretinal fibrosis), which can lead to impaired vision.^2-4

Please speak to your medical team to learn more about the symptoms and complications of PIC.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

The exact cause of PIC is unknown (idiopathic).^2,3 It has been proposed that it could be an autoimmune condition, in which the body produces an immune response attacking the outer retina and inner choroid. There could also be the involvement of genetic and environmental factors.

Diagnosis of PIC is typically clinical, with the help of multimodal imaging to identify presence of the inflammatory lesions and signs of ongoing inflammatory activity.² The imaging techniques may include fluorescein angiography, indocyanine green angiography, optical coherence tomography (OCT) imaging, fundus autofluorescence (FAF) imaging and OCT angiograph.^2,3

A differential diagnosis can rule out other conditions that have similar symptoms, such as presumed ocular histoplasmosis syndrome (POHS), progressive subretinal fibrosis and uveitis syndrome, acute posterior multifocal placoid pigment epitheliopathy, BCR, and multiple evanescent white dot syndrome.³

Please speak to your medical team to learn more about the available diagnostic pathways for PIC.

There is currently no consensus treatment established for PIC.⁶ Treatment may depend on the symptoms and disease complications including primary cause of vision loss.²

Treatment may include corticosteroids, steroid-sparing immunomodulatory drugs, or intravitreal anti-vascular endothelial growth factor (anti-VEGF) therapy.^2,6 In some cases, treatment may not be considered necessary, and individuals may just be monitored for disease progression and complications.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of PIC may include general practitioners (GP) and ophthalmologists.¹ The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

We are not aware of any clinical care guidelines for PIC in Australia. If you know of any relevant care guidelines, please let us know via the Contribute page.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

It may be important to consider that individuals with PIC may have issues with their vision as well as sensitivity to light.

Classification criteria for punctate inner choroiditis has been developed by the Standardization of Uveitis Nomenclature (SUN) Working Group (an international collaboration) for research purposes.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

We are not aware of any rare disease organisations for PIC in Australia. If you know of any rare disease organisation supporting people living with PIC, please let us know via the Contribute page. If you are interested in starting an Australian organisation, please see Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia.

International Organisation

Macular Society (United Kingdom)

Website: https://www.macularsociety.org/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

PIC varies between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on PIC can be found at:

• Genetic and Rare Diseases (GARD) Information Center: Punctate Inner Choroidopathy

• ORPHA:580951 Punctate inner choroidopathy

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.